[ { "id": "Q9Y2C2-1.321.321", "start_pos": 321, "end_pos": 321, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Mutational study of heparan sulfate 2-O-sulfotransferase and chondroitin sulfate 2-O-sulfotransferase.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Xu D, Song D, Pedersen LC, Liu J", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "Reactome", "id": "R-HSA-2022870", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2022870" }, { "database": "RefSeq", "id": "NP_005706", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005706" } ], "reference": [ { "type": "PubMed", "id": "17227754", "url": "https://glygen.org/publication/PubMed/17227754" } ] } ], "crossref": [ { "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "17227754", "url": "https://glygen.org/publication/PubMed/17227754", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "YFKGVLSIYKDPEHRKLGNM", "down_seq": "VTVKKTVPSPEAVQILYQRM", "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Severely abrogates sulfotransferase activity but does not affect 3'-phosphoadenylyl sulfate substrate binding; may be involved in polysaccharide substrate binding specificity.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "PubMed", "id": "17227754", "url": "https://glygen.org/publication/PubMed/17227754" } ] }, { "sequence_org": "T", "sequence_mut": "R", "comment": "Severely abrogates sulfotransferase activity but does not affect 3'-phosphoadenylyl sulfate substrate binding; may be involved in polysaccharide substrate binding specificity.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" }, { "database": "PubMed", "id": "17227754", "url": "https://glygen.org/publication/PubMed/17227754" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.341.341", "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": "Q9Y2C2-1.126.126", "start_pos": 126, "end_pos": 126, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1780122648", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780122648", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1780122648", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780122648#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VYNRVGKCGSRTVVLLLRIL", "down_seq": "EKHGFNLVTSDIHNKTRLTK", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1780122648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780122648" }, { "id": "rs1780122648", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780122648#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 2 filters: num. of cancers (4); protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148941364", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S126", "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" } ] }, { "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.130.130", "start_pos": 130, "end_pos": 130, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs771336631", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771336631", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771336631", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771336631", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771336631", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771336631#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs771336631", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771336631", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "VGKCGSRTVVLLLRILSEKH", "down_seq": "FNLVTSDIHNKTRLTKNEQM", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs771336631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771336631" }, { "id": "rs771336631", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771336631" }, { "id": "rs771336631", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771336631#frequency_tab" }, { "id": "rs771336631", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771336631" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 2 filters: num. of cancers (4); protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148941375", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G130", "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: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: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" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148941376", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G130", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.142.142", "start_pos": 142, "end_pos": 142, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1780123636", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780123636", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1780123636", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780123636#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LRILSEKHGFNLVTSDIHNK", "down_seq": "RLTKNEQMELIKNISTAEQP", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1780123636", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780123636" }, { "id": "rs1780123636", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780123636#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-loss (NKT->NKI); protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148941412", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T142", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.162.162", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.175.175", "start_pos": 175, "end_pos": 175, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2533894033", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2533894033", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NISTAEQPYLFTRHVHFLNF", "down_seq": "RFGGDQPVYINIIRDPVNRF", "snv": [ { "evidence": [ { "id": "rs2533894033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2533894033" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NFS->NFL); glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148953948", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S175", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.192.192", "start_pos": 192, "end_pos": 192, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs377151286", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377151286", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs377151286", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377151286", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs377151286", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377151286#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs377151286", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377151286", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1223482301", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223482301", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1223482301", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1223482301", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "LNFSRFGGDQPVYINIIRDP", "down_seq": "NRFLSNYFFRRFGDWRGEQN", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs377151286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377151286" }, { "id": "rs377151286", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377151286" }, { "id": "rs377151286", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377151286#frequency_tab" }, { "id": "rs377151286", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377151286" } ], "glycoeffect": [], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964456", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V192", "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: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": "rs1223482301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223482301" }, { "id": "rs1223482301", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1223482301" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964457", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V192", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.195.195", "start_pos": 195, "end_pos": 195, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs370623836", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370623836", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs370623836", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370623836", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs370623836", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370623836#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs370623836", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370623836", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "SRFGGDQPVYINIIRDPVNR", "down_seq": "LSNYFFRRFGDWRGEQNHMI", "snv": [ { "evidence": [ { "id": "rs370623836", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370623836" }, { "id": "rs370623836", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370623836" }, { "id": "rs370623836", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370623836#frequency_tab" }, { "id": "rs370623836", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370623836" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NRF->NRC); glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964466", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F195", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.238.238", "start_pos": 238, "end_pos": 238, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1401293653", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1401293653", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1401293653", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1401293653#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1401293653", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1401293653", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs529542591", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529542591", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs529542591", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs529542591", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs529542591", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529542591", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs529542591", "url": "http://gnomad.broadinstitute.org/awesome?query=rs529542591", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PSMRQEERYLDINECILENY", "down_seq": "ECSNPRLFYIIPYFCGQHPR", "snv": [ { "evidence": [ { "id": "rs1401293653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1401293653" }, { "id": "rs1401293653", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1401293653#frequency_tab" }, { "id": "rs1401293653", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1401293653" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NYP->NYS); glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019169", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P238", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs529542591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529542591" }, { "id": "rs529542591", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs529542591" }, { "id": "rs529542591", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529542591" }, { "id": "rs529542591", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs529542591" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019170", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P238", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs529542591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529542591" }, { "id": "rs529542591", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs529542591" }, { "id": "rs529542591", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs529542591" }, { "id": "rs529542591", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs529542591" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019170", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P238", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.305.305", "start_pos": 305, "end_pos": 305, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs141035429", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141035429", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs141035429", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141035429", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs141035429", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141035429#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs141035429", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141035429", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "EELEDVLLLLERFLPHYFKG", "down_seq": "LSIYKDPEHRKLGNMTVTVK", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs141035429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141035429" }, { "id": "rs141035429", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141035429" }, { "id": "rs141035429", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs141035429#frequency_tab" }, { "id": "rs141035429", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs141035429" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021457", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V305", "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", "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021458", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "V305", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.323.323", "start_pos": 323, "end_pos": 323, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs773744901", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773744901", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773744901", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773744901", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773744901", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773744901", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1383966107", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1383966107", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1383966107", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1383966107#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1383966107", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1383966107", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KGVLSIYKDPEHRKLGNMTV", "down_seq": "VKKTVPSPEAVQILYQRMRY", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs773744901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773744901" }, { "id": "rs773744901", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773744901" }, { "id": "rs773744901", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773744901" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073863", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T323", "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: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1383966107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1383966107" }, { "id": "rs1383966107", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1383966107#frequency_tab" }, { "id": "rs1383966107", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1383966107" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073862", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T323", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.86.86", "start_pos": 86, "end_pos": 86, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1164227731", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164227731", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1164227731", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1164227731", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QLSGGPPRFLLDLRQYLGNS", "down_seq": "YLDDHGPPPSKVLPFPSQVV", "snv": [ { "evidence": [ { "id": "rs1164227731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164227731" }, { "id": "rs1164227731", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1164227731" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NST->NSA); glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148886994", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T86", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-loss (NST->NSN); protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148886995", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T86", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.106.106", "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", "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": "Q9Y2C2-1.100.100", "start_pos": 100, "end_pos": 100, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1209602666", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209602666", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1209602666", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1209602666", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs762351422", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762351422", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs762351422", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762351422", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs762351422", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762351422#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs762351422", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762351422", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "QYLGNSTYLDDHGPPPSKVL", "down_seq": "FPSQVVYNRVGKCGSRTVVL", "snv": [ { "evidence": [ { "id": "rs1209602666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209602666" }, { "id": "rs1209602666", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1209602666" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941286", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P100", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1209602666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209602666" }, { "id": "rs1209602666", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1209602666" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941286", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P100", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762351422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762351422" }, { "id": "rs762351422", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762351422" }, { "id": "rs762351422", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762351422#frequency_tab" }, { "id": "rs762351422", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762351422" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941285", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P100", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.120.120", "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": 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": "Q9Y2C2-1.103.103", "start_pos": 103, "end_pos": 103, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs763721374", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763721374", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763721374", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763721374", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763721374", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763721374", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1780120968", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780120968", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1780120968", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780120968#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1780120968", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780120968", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GNSTYLDDHGPPPSKVLPFP", "down_seq": "QVVYNRVGKCGSRTVVLLLR", "snv": [ { "evidence": [ { "id": "rs763721374", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763721374" }, { "id": "rs763721374", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763721374" }, { "id": "rs763721374", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763721374" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941294", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S103", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148941296", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S103", "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": "rs1780120968", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780120968" }, { "id": "rs1780120968", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780120968#frequency_tab" }, { "id": "rs1780120968", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780120968" } ], "glycoeffect": [], "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941295", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S103", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.105.105", "start_pos": 105, "end_pos": 105, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs751168089", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751168089", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751168089", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751168089", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751168089", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751168089", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "STYLDDHGPPPSKVLPFPSQ", "down_seq": "VYNRVGKCGSRTVVLLLRIL", "snv": [ { "evidence": [ { "id": "rs751168089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751168089" }, { "id": "rs751168089", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751168089" }, { "id": "rs751168089", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751168089" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941300", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751168089", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751168089" }, { "id": "rs751168089", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751168089" }, { "id": "rs751168089", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751168089" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941300", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V105", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.106.106", "start_pos": 106, "end_pos": 106, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs201101428", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201101428", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201101428", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201101428", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs201101428", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201101428", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs201101428", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201101428", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "TYLDDHGPPPSKVLPFPSQV", "down_seq": "YNRVGKCGSRTVVLLLRILS", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148941304", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "V106", "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" ] }, { "evidence": [ { "id": "rs201101428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201101428" }, { "id": "rs201101428", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201101428" }, { "id": "rs201101428", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201101428" }, { "id": "rs201101428", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201101428" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941303", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "V106", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.10.10", "start_pos": 10, "end_pos": 10, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775887806", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775887806", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775887806", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1775887806", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "MKKKQQHPG", "down_seq": "GADPWPHGAPMGGAPPGLGS", "snv": [ { "evidence": [ { "id": "rs1775887806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775887806" }, { "id": "rs1775887806", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1775887806" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747459", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G10", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.111.111", "start_pos": 111, "end_pos": 111, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1475554143", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1475554143", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1475554143", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1475554143", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "HGPPPSKVLPFPSQVVYNRV", "down_seq": "KCGSRTVVLLLRILSEKHGF", "snv": [ { "evidence": [ { "id": "rs1475554143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1475554143" }, { "id": "rs1475554143", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1475554143" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941318", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G111", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.117.117", "start_pos": 117, "end_pos": 117, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1562307106", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562307106", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1562307106", "url": "https://www.ensembl.org/id/rs1562307106", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KVLPFPSQVVYNRVGKCGSR", "down_seq": "VVLLLRILSEKHGFNLVTSD", "snv": [ { "evidence": [ { "id": "rs1562307106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562307106" }, { "id": "rs1562307106", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562307106" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941337", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148941337", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T117", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.136.136", "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": "Q9Y2C2-1.11.11", "start_pos": 11, "end_pos": 11, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs370896083", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370896083", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs370896083", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370896083", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs370896083", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370896083#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs370896083", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370896083", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "MKKKQQHPGG", "down_seq": "ADPWPHGAPMGGAPPGLGSW", "snv": [ { "evidence": [ { "id": "rs370896083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370896083" }, { "id": "rs370896083", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370896083" }, { "id": "rs370896083", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370896083#frequency_tab" }, { "id": "rs370896083", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370896083" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747461", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G11", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs370896083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370896083" }, { "id": "rs370896083", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370896083" }, { "id": "rs370896083", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370896083#frequency_tab" }, { "id": "rs370896083", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370896083" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747461", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "G11", "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", "germline" ] }, { "evidence": [ { "id": "rs370896083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370896083" }, { "id": "rs370896083", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370896083" }, { "id": "rs370896083", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370896083#frequency_tab" }, { "id": "rs370896083", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370896083" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747461", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G11", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.120.120", "start_pos": 120, "end_pos": 120, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs779111757", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779111757", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779111757", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779111757", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779111757", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779111757", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "PFPSQVVYNRVGKCGSRTVV", "down_seq": "LLRILSEKHGFNLVTSDIHN", "snv": [ { "evidence": [ { "id": "rs779111757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779111757" }, { "id": "rs779111757", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779111757" }, { "id": "rs779111757", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779111757" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941346", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L120", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.140.140", "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": "Q9Y2C2-1.123.123", "start_pos": 123, "end_pos": 123, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SQVVYNRVGKCGSRTVVLLL", "down_seq": "ILSEKHGFNLVTSDIHNKTR", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148941355", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R123", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.127.127", "start_pos": 127, "end_pos": 127, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "YNRVGKCGSRTVVLLLRILS", "down_seq": "KHGFNLVTSDIHNKTRLTKN", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148941368", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E127", "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": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "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": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148941367", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E127", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.128.128", "start_pos": 128, "end_pos": 128, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1338332064", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1338332064", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1338332064", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1338332064", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "NRVGKCGSRTVVLLLRILSE", "down_seq": "HGFNLVTSDIHNKTRLTKNE", "snv": [ { "evidence": [ { "id": "rs1338332064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1338332064" }, { "id": "rs1338332064", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1338332064" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941370", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K128", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.129.129", "start_pos": 129, "end_pos": 129, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs149862386", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149862386", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs149862386", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149862386", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs149862386", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149862386", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs149862386", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149862386#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs149862386", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149862386", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs778059881", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778059881", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778059881", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778059881", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778059881", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778059881", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "RVGKCGSRTVVLLLRILSEK", "down_seq": "GFNLVTSDIHNKTRLTKNEQ", "snv": [ { "evidence": [ { "id": "rs149862386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149862386" }, { "id": "rs149862386", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149862386" }, { "id": "rs149862386", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149862386" }, { "id": "rs149862386", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149862386#frequency_tab" }, { "id": "rs149862386", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149862386" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941374", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "H129", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778059881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778059881" }, { "id": "rs778059881", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778059881" }, { "id": "rs778059881", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778059881" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941372", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H129", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.12.12", "start_pos": 12, "end_pos": 12, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1282803659", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282803659", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1282803659", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1282803659", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MKKKQQHPGGG", "down_seq": "DPWPHGAPMGGAPPGLGSWK", "snv": [ { "evidence": [ { "id": "rs1282803659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1282803659" }, { "id": "rs1282803659", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1282803659" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747464", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A12", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.131.131", "start_pos": 131, "end_pos": 131, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1780122998", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780122998", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1780122998", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780122998#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "GKCGSRTVVLLLRILSEKHG", "down_seq": "NLVTSDIHNKTRLTKNEQME", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148941378", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "F131", "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": "rs1780122998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780122998" }, { "id": "rs1780122998", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780122998#frequency_tab" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941379", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F131", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.132.132", "start_pos": 132, "end_pos": 132, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs145354165", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145354165", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs145354165", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145354165", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs145354165", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145354165#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs145354165", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145354165", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "KCGSRTVVLLLRILSEKHGF", "down_seq": "LVTSDIHNKTRLTKNEQMEL", "snv": [ { "evidence": [ { "id": "rs145354165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145354165" }, { "id": "rs145354165", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145354165" }, { "id": "rs145354165", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145354165#frequency_tab" }, { "id": "rs145354165", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145354165" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941382", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N132", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148941381", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "N132", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.133.133", "start_pos": 133, "end_pos": 133, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "CGSRTVVLLLRILSEKHGFN", "down_seq": "VTSDIHNKTRLTKNEQMELI", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148941386", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L133", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.134.134", "start_pos": 134, "end_pos": 134, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs760159603", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760159603", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760159603", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760159603", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760159603", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760159603", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "GSRTVVLLLRILSEKHGFNL", "down_seq": "TSDIHNKTRLTKNEQMELIK", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148941388", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "V134", "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": "rs760159603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760159603" }, { "id": "rs760159603", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760159603" }, { "id": "rs760159603", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760159603" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941387", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V134", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760159603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760159603" }, { "id": "rs760159603", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760159603" }, { "id": "rs760159603", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760159603" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941387", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V134", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.135.135", "start_pos": 135, "end_pos": 135, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs371760507", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371760507", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs371760507", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371760507", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs371760507", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371760507#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs371760507", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371760507", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SRTVVLLLRILSEKHGFNLV", "down_seq": "SDIHNKTRLTKNEQMELIKN", "snv": [ { "evidence": [ { "id": "rs371760507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371760507" }, { "id": "rs371760507", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371760507" }, { "id": "rs371760507", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371760507#frequency_tab" }, { "id": "rs371760507", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371760507" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941390", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T135", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.155.155", "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": "Q9Y2C2-1.138.138", "start_pos": 138, "end_pos": 138, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1325317639", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1325317639", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1325317639", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1325317639#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1325317639", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1325317639", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "VVLLLRILSEKHGFNLVTSD", "down_seq": "HNKTRLTKNEQMELIKNIST", "snv": [ { "evidence": [ { "id": "rs1325317639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1325317639" }, { "id": "rs1325317639", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1325317639#frequency_tab" }, { "id": "rs1325317639", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1325317639" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941401", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I138", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.139.139", "start_pos": 139, "end_pos": 139, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1780123435", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780123435", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1780123435", "url": "https://www.ensembl.org/id/rs1780123435", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "VLLLRILSEKHGFNLVTSDI", "down_seq": "NKTRLTKNEQMELIKNISTA", "snv": [ { "evidence": [ { "id": "rs1780123435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780123435" }, { "id": "rs1780123435", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780123435" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941402", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H139", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.120.120", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.13.13", "start_pos": 13, "end_pos": 13, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767518867", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767518867", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767518867", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767518867", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767518867", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767518867", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1775888038", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775888038", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775888038", "url": "https://www.ensembl.org/id/rs1775888038", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "MKKKQQHPGGGA", "down_seq": "PWPHGAPMGGAPPGLGSWKR", "snv": [ { "evidence": [ { "id": "rs767518867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767518867" }, { "id": "rs767518867", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767518867" }, { "id": "rs767518867", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767518867" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747469", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D13", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1775888038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775888038" }, { "id": "rs1775888038", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775888038" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747468", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D13", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.33.33", "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": 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": "Q9Y2C2-1.141.141", "start_pos": 141, "end_pos": 141, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LLRILSEKHGFNLVTSDIHN", "down_seq": "TRLTKNEQMELIKNISTAEQ", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148941409", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K141", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.123.123", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.144.144", "start_pos": 144, "end_pos": 144, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1423471639", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1423471639", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1423471639", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1423471639", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "ILSEKHGFNLVTSDIHNKTR", "down_seq": "TKNEQMELIKNISTAEQPYL", "snv": [ { "evidence": [ { "id": "rs1423471639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1423471639" }, { "id": "rs1423471639", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1423471639" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941417", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L144", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.145.145", "start_pos": 145, "end_pos": 145, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs767308777", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767308777", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767308777", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767308777", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767308777", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767308777#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs767308777", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767308777", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LSEKHGFNLVTSDIHNKTRL", "down_seq": "KNEQMELIKNISTAEQPYLF", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148941420", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T145", "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": "rs767308777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767308777" }, { "id": "rs767308777", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767308777" }, { "id": "rs767308777", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767308777#frequency_tab" }, { "id": "rs767308777", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767308777" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941421", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T145", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.146.146", "start_pos": 146, "end_pos": 146, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1562307148", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562307148", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1562307148", "url": "https://www.ensembl.org/id/rs1562307148", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SEKHGFNLVTSDIHNKTRLT", "down_seq": "NEQMELIKNISTAEQPYLFT", "snv": [ { "evidence": [ { "id": "rs1562307148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562307148" }, { "id": "rs1562307148", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562307148" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941423", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K146", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.126.126", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.166.166", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.149.149", "start_pos": 149, "end_pos": 149, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1421252127", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1421252127", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1421252127", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1421252127#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1421252127", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1421252127", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "HGFNLVTSDIHNKTRLTKNE", "down_seq": "MELIKNISTAEQPYLFTRHV", "snv": [ { "evidence": [ { "id": "rs1421252127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1421252127" }, { "id": "rs1421252127", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1421252127#frequency_tab" }, { "id": "rs1421252127", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1421252127" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941434", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q149", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.129.129", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.14.14", "start_pos": 14, "end_pos": 14, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1226422301", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226422301", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1226422301", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1226422301#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "MKKKQQHPGGGAD", "down_seq": "WPHGAPMGGAPPGLGSWKRR", "snv": [ { "evidence": [ { "id": "rs1226422301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226422301" }, { "id": "rs1226422301", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1226422301#frequency_tab" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747471", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P14", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1226422301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226422301" }, { "id": "rs1226422301", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1226422301#frequency_tab" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747471", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P14", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.150.150", "start_pos": 150, "end_pos": 150, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1186396205", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186396205", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1186396205", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1186396205#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "GFNLVTSDIHNKTRLTKNEQ", "down_seq": "ELIKNISTAEQPYLFTRHVH", "snv": [ { "evidence": [ { "id": "rs1186396205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1186396205" }, { "id": "rs1186396205", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1186396205#frequency_tab" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148953872", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M150", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.151.151", "start_pos": 151, "end_pos": 151, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1475137616", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1475137616", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1475137616", "url": "https://www.ensembl.org/id/rs1475137616", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "FNLVTSDIHNKTRLTKNEQM", "down_seq": "LIKNISTAEQPYLFTRHVHF", "snv": [ { "evidence": [ { "id": "rs1475137616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1475137616" }, { "id": "rs1475137616", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1475137616" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148953876", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E151", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.131.131", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.132.132", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.133.133", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.154.154", "start_pos": 154, "end_pos": 154, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1780423695", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780423695", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1780423695", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780423695", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "VTSDIHNKTRLTKNEQMELI", "down_seq": "NISTAEQPYLFTRHVHFLNF", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148953884", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K154", "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": "rs1780423695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780423695" }, { "id": "rs1780423695", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780423695" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148953886", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K154", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.134.134", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.135.135", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.136.136", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.173.173", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": "Q9Y2C2-1.158.158", "start_pos": 158, "end_pos": 158, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "IHNKTRLTKNEQMELIKNIS", "down_seq": "AEQPYLFTRHVHFLNFSRFG", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148953896", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T158", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.138.138", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.139.139", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.160.160", "start_pos": 160, "end_pos": 160, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs772986508", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772986508", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772986508", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772986508", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772986508", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772986508#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs772986508", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772986508", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "NKTRLTKNEQMELIKNISTA", "down_seq": "QPYLFTRHVHFLNFSRFGGD", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs772986508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772986508" }, { "id": "rs772986508", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772986508" }, { "id": "rs772986508", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772986508#frequency_tab" }, { "id": "rs772986508", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772986508" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148953902", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E160", "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", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.140.140", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.161.161", "start_pos": 161, "end_pos": 161, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1178083219", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178083219", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1178083219", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1178083219#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1178083219", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178083219", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs760470688", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760470688", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760470688", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760470688", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760470688", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760470688#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs760470688", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760470688", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "KTRLTKNEQMELIKNISTAE", "down_seq": "PYLFTRHVHFLNFSRFGGDQ", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1178083219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178083219" }, { "id": "rs1178083219", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1178083219#frequency_tab" }, { "id": "rs1178083219", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178083219" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148953907", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q161", "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", "ebi", "germline" ] }, { "evidence": [ { "id": "rs760470688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760470688" }, { "id": "rs760470688", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760470688" }, { "id": "rs760470688", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760470688#frequency_tab" }, { "id": "rs760470688", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760470688" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148953906", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q161", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760470688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760470688" }, { "id": "rs760470688", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760470688" }, { "id": "rs760470688", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760470688#frequency_tab" }, { "id": "rs760470688", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760470688" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148953906", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q161", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.162.162", "start_pos": 162, "end_pos": 162, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TRLTKNEQMELIKNISTAEQ", "down_seq": "YLFTRHVHFLNFSRFGGDQP", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148953909", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P162", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.142.142", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.163.163", "start_pos": 163, "end_pos": 163, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs766207138", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766207138", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766207138", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766207138", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766207138", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766207138", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "RLTKNEQMELIKNISTAEQP", "down_seq": "LFTRHVHFLNFSRFGGDQPV", "snv": [ { "evidence": [ { "id": "rs766207138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766207138" }, { "id": "rs766207138", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766207138" }, { "id": "rs766207138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766207138" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148953912", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766207138", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766207138" }, { "id": "rs766207138", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766207138" }, { "id": "rs766207138", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766207138" } ], "glycoeffect": [], "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148953912", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y163", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.164.164", "start_pos": 164, "end_pos": 164, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "LTKNEQMELIKNISTAEQPY", "down_seq": "FTRHVHFLNFSRFGGDQPVY", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148953915", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L164", "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": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148953914", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L164", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.165.165", "start_pos": 165, "end_pos": 165, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1331684536", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1331684536", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1331684536", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1331684536", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "TKNEQMELIKNISTAEQPYL", "down_seq": "TRHVHFLNFSRFGGDQPVYI", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148953918", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F165", "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": "rs1331684536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1331684536" }, { "id": "rs1331684536", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1331684536" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148953919", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F165", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.145.145", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.146.146", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.169.169", "start_pos": 169, "end_pos": 169, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1368683081", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368683081", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1368683081", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1368683081#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1368683081", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1368683081", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "QMELIKNISTAEQPYLFTRH", "down_seq": "HFLNFSRFGGDQPVYINIIR", "snv": [ { "evidence": [ { "id": "rs1368683081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1368683081" }, { "id": "rs1368683081", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1368683081#frequency_tab" }, { "id": "rs1368683081", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1368683081" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148953929", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V169", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.149.149", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.150.150", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.151.151", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_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": "Q9Y2C2-1.172.172", "start_pos": 172, "end_pos": 172, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1221460407", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221460407", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1221460407", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1221460407", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "LIKNISTAEQPYLFTRHVHF", "down_seq": "NFSRFGGDQPVYINIIRDPV", "snv": [ { "evidence": [ { "id": "rs1221460407", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221460407" }, { "id": "rs1221460407", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1221460407" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148953939", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L172", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.154.154", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.192.192", "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": "Q9Y2C2-1.176.176", "start_pos": 176, "end_pos": 176, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1780737501", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780737501", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1780737501", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780737501", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ISTAEQPYLFTRHVHFLNFS", "down_seq": "FGGDQPVYINIIRDPVNRFL", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148953950", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R176", "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": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148953951", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R176", "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": "rs1780737501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780737501" }, { "id": "rs1780737501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780737501" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964410", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R176", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.177.177", "start_pos": 177, "end_pos": 177, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1582929375", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582929375", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1582929375", "url": "https://www.ensembl.org/id/rs1582929375", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "STAEQPYLFTRHVHFLNFSR", "down_seq": "GGDQPVYINIIRDPVNRFLS", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1582929375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582929375" }, { "id": "rs1582929375", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582929375" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964411", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F177", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.157.157", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.158.158", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.197.197", "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": "Q9Y2C2-1.179.179", "start_pos": 179, "end_pos": 179, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1262550792", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262550792", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1262550792", "url": "https://www.ensembl.org/id/rs1262550792", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "AEQPYLFTRHVHFLNFSRFG", "down_seq": "DQPVYINIIRDPVNRFLSNY", "snv": [ { "evidence": [ { "id": "rs1262550792", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1262550792" }, { "id": "rs1262550792", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1262550792" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964418", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G179", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.17.17", "start_pos": 17, "end_pos": 17, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1347801907", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347801907", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1347801907", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347801907", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1775888321", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775888321", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775888321", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775888321#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1775888321", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1775888321", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs559911654", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559911654", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs559911654", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs559911654", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs559911654", "url": "https://www.ncbi.nlm.nih.gov/snp/rs559911654#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs559911654", "url": "http://gnomad.broadinstitute.org/awesome?query=rs559911654", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "MKKKQQHPGGGADPWP", "down_seq": "GAPMGGAPPGLGSWKRRVPL", "snv": [ { "evidence": [ { "id": "rs1347801907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1347801907" }, { "id": "rs1347801907", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1347801907" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747481", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H17", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1775888321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775888321" }, { "id": "rs1775888321", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775888321#frequency_tab" }, { "id": "rs1775888321", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1775888321" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747480", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H17", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs559911654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs559911654" }, { "id": "rs559911654", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs559911654" }, { "id": "rs559911654", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs559911654#frequency_tab" }, { "id": "rs559911654", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs559911654" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747479", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H17", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.180.180", "start_pos": 180, "end_pos": 180, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs746597678", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746597678", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746597678", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746597678", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746597678", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746597678", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1208035787", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208035787", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1208035787", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1208035787#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "EQPYLFTRHVHFLNFSRFGG", "down_seq": "QPVYINIIRDPVNRFLSNYF", "snv": [ { "evidence": [ { "id": "rs746597678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746597678" }, { "id": "rs746597678", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746597678" }, { "id": "rs746597678", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746597678" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964421", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D180", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1208035787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1208035787" }, { "id": "rs1208035787", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1208035787#frequency_tab" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964422", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D180", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964421", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "D180", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.160.160", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.181.181", "start_pos": 181, "end_pos": 181, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1780737863", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780737863", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1780737863", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780737863", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1780737969", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780737969", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1780737969", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780737969#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "QPYLFTRHVHFLNFSRFGGD", "down_seq": "PVYINIIRDPVNRFLSNYFF", "snv": [ { "evidence": [ { "id": "rs1780737863", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780737863" }, { "id": "rs1780737863", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780737863" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964423", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q181", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1780737969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780737969" }, { "id": "rs1780737969", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780737969#frequency_tab" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964424", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q181", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.161.161", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.162.162", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.163.163", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.184.184", "start_pos": 184, "end_pos": 184, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs139823892", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139823892", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs139823892", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139823892", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs139823892", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139823892#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs139823892", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139823892", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LFTRHVHFLNFSRFGGDQPV", "down_seq": "INIIRDPVNRFLSNYFFRRF", "snv": [ { "evidence": [ { "id": "rs139823892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139823892" }, { "id": "rs139823892", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139823892" }, { "id": "rs139823892", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139823892#frequency_tab" }, { "id": "rs139823892", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139823892" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964433", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y184", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139823892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139823892" }, { "id": "rs139823892", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139823892" }, { "id": "rs139823892", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139823892#frequency_tab" }, { "id": "rs139823892", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139823892" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964433", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y184", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.164.164", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.185.185", "start_pos": 185, "end_pos": 185, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1562314759", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562314759", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1562314759", "url": "https://www.ensembl.org/id/rs1562314759", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "FTRHVHFLNFSRFGGDQPVY", "down_seq": "NIIRDPVNRFLSNYFFRRFG", "snv": [ { "evidence": [ { "id": "rs1562314759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562314759" }, { "id": "rs1562314759", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562314759" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964435", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I185", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.165.165", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.186.186", "start_pos": 186, "end_pos": 186, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1780738412", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780738412", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1780738412", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780738412#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "TRHVHFLNFSRFGGDQPVYI", "down_seq": "IIRDPVNRFLSNYFFRRFGD", "snv": [ { "evidence": [ { "id": "rs1780738412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780738412" }, { "id": "rs1780738412", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780738412#frequency_tab" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964439", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N186", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.166.166", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_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": "Q9Y2C2-1.187.187", "start_pos": 187, "end_pos": 187, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "RHVHFLNFSRFGGDQPVYIN", "down_seq": "IRDPVNRFLSNYFFRRFGDW", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964442", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I187", "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" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964441", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I187", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.167.167", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_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": "Q9Y2C2-1.188.188", "start_pos": 188, "end_pos": 188, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1218286142", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1218286142", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1218286142", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1218286142#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1218286142", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1218286142", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "HVHFLNFSRFGGDQPVYINI", "down_seq": "RDPVNRFLSNYFFRRFGDWR", "snv": [ { "evidence": [ { "id": "rs1218286142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1218286142" }, { "id": "rs1218286142", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1218286142#frequency_tab" }, { "id": "rs1218286142", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1218286142" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964444", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I188", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.168.168", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.169.169", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.172.172", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.18.18", "start_pos": 18, "end_pos": 18, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775888537", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775888537", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775888537", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775888537#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1775888537", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1775888537", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "MKKKQQHPGGGADPWPH", "down_seq": "APMGGAPPGLGSWKRRVPLL", "snv": [ { "evidence": [ { "id": "rs1775888537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775888537" }, { "id": "rs1775888537", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775888537#frequency_tab" }, { "id": "rs1775888537", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1775888537" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747482", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G18", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.193.193", "start_pos": 193, "end_pos": 193, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1001881262", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1001881262", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1001881262", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1001881262#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1001881262", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1001881262", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "NFSRFGGDQPVYINIIRDPV", "down_seq": "RFLSNYFFRRFGDWRGEQNH", "snv": [ { "evidence": [ { "id": "rs1001881262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1001881262" }, { "id": "rs1001881262", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1001881262#frequency_tab" }, { "id": "rs1001881262", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1001881262" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964460", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N193", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.173.173", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.194.194", "start_pos": 194, "end_pos": 194, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs764103894", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764103894", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764103894", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764103894", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764103894", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764103894#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs764103894", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764103894", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs201297688", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201297688", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201297688", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201297688", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs201297688", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201297688", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs201297688", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201297688", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FSRFGGDQPVYINIIRDPVN", "down_seq": "FLSNYFFRRFGDWRGEQNHM", "snv": [ { "evidence": [ { "id": "rs764103894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764103894" }, { "id": "rs764103894", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764103894" }, { "id": "rs764103894", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764103894#frequency_tab" }, { "id": "rs764103894", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764103894" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964463", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R194", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs764103894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764103894" }, { "id": "rs764103894", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764103894" }, { "id": "rs764103894", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764103894#frequency_tab" }, { "id": "rs764103894", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764103894" } ], "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, sulfotransferase).", "chr_id": "6", "chr_pos": "148964463", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R194", "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", "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs201297688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201297688" }, { "id": "rs201297688", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201297688" }, { "id": "rs201297688", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201297688" }, { "id": "rs201297688", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201297688" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964462", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R194", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.175.175", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": 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": 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": "Q9Y2C2-1.196.196", "start_pos": 196, "end_pos": 196, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "RFGGDQPVYINIIRDPVNRF", "down_seq": "SNYFFRRFGDWRGEQNHMIR", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964469", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L196", "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" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964468", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "L196", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.176.176", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.177.177", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.198.198", "start_pos": 198, "end_pos": 198, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1414049933", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1414049933", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1414049933", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1414049933", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs960313597", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs960313597", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs960313597", "url": "https://www.ncbi.nlm.nih.gov/snp/rs960313597#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "GGDQPVYINIIRDPVNRFLS", "down_seq": "YFFRRFGDWRGEQNHMIRTP", "snv": [ { "evidence": [ { "id": "rs1414049933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1414049933" }, { "id": "rs1414049933", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1414049933" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964476", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N198", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs960313597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs960313597" }, { "id": "rs960313597", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs960313597#frequency_tab" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964475", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N198", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.199.199", "start_pos": 199, "end_pos": 199, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1446564170", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1446564170", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1446564170", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1446564170#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1446564170", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1446564170", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "GDQPVYINIIRDPVNRFLSN", "down_seq": "FFRRFGDWRGEQNHMIRTPS", "snv": [ { "evidence": [ { "id": "rs1446564170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1446564170" }, { "id": "rs1446564170", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1446564170#frequency_tab" }, { "id": "rs1446564170", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1446564170" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964478", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y199", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.179.179", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.180.180", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.181.181", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.219.219", "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": "Q9Y2C2-1.19.19", "start_pos": 19, "end_pos": 19, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1394916131", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1394916131", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1394916131", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1394916131", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1307326607", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307326607", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1307326607", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1307326607#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1307326607", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1307326607", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MKKKQQHPGGGADPWPHG", "down_seq": "PMGGAPPGLGSWKRRVPLLP", "snv": [ { "evidence": [ { "id": "rs1394916131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1394916131" }, { "id": "rs1394916131", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1394916131" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747485", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A19", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1394916131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1394916131" }, { "id": "rs1394916131", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1394916131" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747485", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A19", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1307326607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307326607" }, { "id": "rs1307326607", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1307326607#frequency_tab" }, { "id": "rs1307326607", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1307326607" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747486", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A19", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "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": 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": "Q9Y2C2-1.202.202", "start_pos": 202, "end_pos": 202, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1780739682", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780739682", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1780739682", "url": "https://www.ensembl.org/id/rs1780739682", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs767749146", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767749146", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767749146", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767749146", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767749146", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767749146", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PVYINIIRDPVNRFLSNYFF", "down_seq": "RFGDWRGEQNHMIRTPSMRQ", "snv": [ { "evidence": [ { "id": "rs1780739682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780739682" }, { "id": "rs1780739682", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780739682" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964486", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R202", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964487", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R202", "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": "rs767749146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767749146" }, { "id": "rs767749146", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767749146" }, { "id": "rs767749146", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767749146" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964487", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R202", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_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", "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": "Q9Y2C2-1.204.204", "start_pos": 204, "end_pos": 204, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs750658695", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750658695", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750658695", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750658695", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750658695", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750658695#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs750658695", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750658695", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "YINIIRDPVNRFLSNYFFRR", "down_seq": "GDWRGEQNHMIRTPSMRQEE", "snv": [ { "evidence": [ { "id": "rs750658695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750658695" }, { "id": "rs750658695", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750658695" }, { "id": "rs750658695", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750658695#frequency_tab" }, { "id": "rs750658695", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750658695" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964492", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F204", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.184.184", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.186.186", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.187.187", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.223.223", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.208.208", "start_pos": 208, "end_pos": 208, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1463781648", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463781648", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1463781648", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1463781648#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1463781648", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463781648", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IRDPVNRFLSNYFFRRFGDW", "down_seq": "GEQNHMIRTPSMRQEERYLD", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964505", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R208", "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" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1463781648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463781648" }, { "id": "rs1463781648", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1463781648#frequency_tab" }, { "id": "rs1463781648", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463781648" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964505", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R208", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.188.188", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.209.209", "start_pos": 209, "end_pos": 209, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2114958455", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2114958455", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2114958455", "url": "https://www.ensembl.org/id/rs2114958455", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "RDPVNRFLSNYFFRRFGDWR", "down_seq": "EQNHMIRTPSMRQEERYLDI", "snv": [ { "evidence": [ { "id": "rs2114958455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2114958455" }, { "id": "rs2114958455", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2114958455" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964508", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G209", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.189.189", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.20.20", "start_pos": 20, "end_pos": 20, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1238517447", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1238517447", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1238517447", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1238517447", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "", "down_seq": "MGGAPPGLGSWKRRVPLLPF", "snv": [ { "evidence": [ { "id": "rs1238517447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1238517447" }, { "id": "rs1238517447", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1238517447" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747488", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P20", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.210.210", "start_pos": 210, "end_pos": 210, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1300542669", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300542669", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1300542669", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300542669", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1171213246", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171213246", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1171213246", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1171213246#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1171213246", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171213246", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "DPVNRFLSNYFFRRFGDWRG", "down_seq": "QNHMIRTPSMRQEERYLDIN", "snv": [ { "evidence": [ { "id": "rs1300542669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1300542669" }, { "id": "rs1300542669", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1300542669" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964511", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E210", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1171213246", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171213246" }, { "id": "rs1171213246", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1171213246#frequency_tab" }, { "id": "rs1171213246", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171213246" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964510", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E210", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.192.192", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.193.193", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.214.214", "start_pos": 214, "end_pos": 214, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1780740303", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780740303", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1780740303", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780740303#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1780740303", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780740303", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "RFLSNYFFRRFGDWRGEQNH", "down_seq": "IRTPSMRQEERYLDINECIL", "snv": [ { "evidence": [ { "id": "rs1780740303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780740303" }, { "id": "rs1780740303", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780740303#frequency_tab" }, { "id": "rs1780740303", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780740303" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964524", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M214", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.194.194", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.216.216", "start_pos": 216, "end_pos": 216, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1562314813", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562314813", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1562314813", "url": "https://www.ensembl.org/id/rs1562314813", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs780349219", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780349219", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780349219", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780349219", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780349219", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780349219#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs780349219", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780349219", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LSNYFFRRFGDWRGEQNHMI", "down_seq": "TPSMRQEERYLDINECILEN", "snv": [ { "evidence": [ { "id": "rs1562314813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562314813" }, { "id": "rs1562314813", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562314813" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964528", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R216", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780349219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780349219" }, { "id": "rs780349219", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780349219" }, { "id": "rs780349219", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780349219#frequency_tab" }, { "id": "rs780349219", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780349219" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964529", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R216", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780349219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780349219" }, { "id": "rs780349219", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780349219" }, { "id": "rs780349219", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780349219#frequency_tab" }, { "id": "rs780349219", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780349219" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964529", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R216", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.196.196", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.197.197", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.236.236", "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": 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": "Q9Y2C2-1.218.218", "start_pos": 218, "end_pos": 218, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "NYFFRRFGDWRGEQNHMIRT", "down_seq": "SMRQEERYLDINECILENYP", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "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, sulfotransferase).", "chr_id": "6", "chr_pos": "148964535", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P218", "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": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964534", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P218", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.198.198", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.238.238", "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": 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": "Q9Y2C2-1.219.219", "start_pos": 219, "end_pos": 219, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs755552691", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755552691", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755552691", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755552691", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755552691", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755552691", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YFFRRFGDWRGEQNHMIRTP", "down_seq": "MRQEERYLDINECILENYPE", "snv": [ { "evidence": [ { "id": "rs755552691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755552691" }, { "id": "rs755552691", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755552691" }, { "id": "rs755552691", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755552691" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148964537", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S219", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.199.199", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.21.21", "start_pos": 21, "end_pos": 21, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs750013918", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750013918", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750013918", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750013918", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750013918", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750013918#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs750013918", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750013918", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs9498146", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9498146", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs9498146", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs9498146", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs9498146", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9498146", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs9498146", "url": "https://www.ncbi.nlm.nih.gov/snp/rs9498146#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs9498146", "url": "http://gnomad.broadinstitute.org/awesome?query=rs9498146", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "MKKKQQHPGGGADPWPHGAP", "down_seq": "GGAPPGLGSWKRRVPLLPFL", "snv": [ { "evidence": [ { "id": "rs750013918", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750013918" }, { "id": "rs750013918", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750013918" }, { "id": "rs750013918", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750013918#frequency_tab" }, { "id": "rs750013918", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750013918" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747493", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M21", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs9498146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9498146" }, { "id": "rs9498146", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs9498146" }, { "id": "rs9498146", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9498146" }, { "id": "rs9498146", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs9498146#frequency_tab" }, { "id": "rs9498146", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs9498146" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "4", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747491", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "M21", "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" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747492", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "M21", "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": "rs9498146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9498146" }, { "id": "rs9498146", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs9498146" }, { "id": "rs9498146", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs9498146" }, { "id": "rs9498146", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs9498146#frequency_tab" }, { "id": "rs9498146", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs9498146" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747491", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M21", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.220.220", "start_pos": 220, "end_pos": 220, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1780740688", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780740688", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1780740688", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780740688#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1780740688", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780740688", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "FFRRFGDWRGEQNHMIRTPS", "down_seq": "RQEERYLDINECILENYPEC", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1780740688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780740688" }, { "id": "rs1780740688", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1780740688#frequency_tab" }, { "id": "rs1780740688", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1780740688" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964542", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M220", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.202.202", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.223.223", "start_pos": 223, "end_pos": 223, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "RFGDWRGEQNHMIRTPSMRQ", "down_seq": "ERYLDINECILENYPECSNP", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "4", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964549", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E223", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.203.203", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.204.204", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.242.242", "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": "Q9Y2C2-1.225.225", "start_pos": 225, "end_pos": 225, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs746546399", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746546399", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746546399", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746546399", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746546399", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746546399", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GDWRGEQNHMIRTPSMRQEE", "down_seq": "YLDINECILENYPECSNPRL", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs746546399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746546399" }, { "id": "rs746546399", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746546399" }, { "id": "rs746546399", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746546399" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964555", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R225", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964555", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R225", "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": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964556", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R225", "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": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148964555", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R225", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.206.206", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.242.242", "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": 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": 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_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.228.228", "start_pos": 228, "end_pos": 228, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775945217", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775945217", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775945217", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775945217#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RGEQNHMIRTPSMRQEERYL", "down_seq": "INECILENYPECSNPRLFYI", "snv": [ { "evidence": [ { "id": "rs1775945217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775945217" }, { "id": "rs1775945217", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775945217#frequency_tab" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019139", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D228", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.208.208", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.229.229", "start_pos": 229, "end_pos": 229, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "GEQNHMIRTPSMRQEERYLD", "down_seq": "NECILENYPECSNPRLFYII", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149019142", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I229", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.209.209", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.249.249", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.22.22", "start_pos": 22, "end_pos": 22, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs779474790", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779474790", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779474790", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779474790", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779474790", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779474790", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs755343816", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755343816", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755343816", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755343816", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755343816", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755343816", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "KKKQQHPGGGADPWPHGAPM", "down_seq": "GAPPGLGSWKRRVPLLPFLR", "snv": [ { "evidence": [ { "id": "rs779474790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779474790" }, { "id": "rs779474790", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779474790" }, { "id": "rs779474790", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779474790" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747495", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G22", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755343816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755343816" }, { "id": "rs755343816", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755343816" }, { "id": "rs755343816", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755343816" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747494", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G22", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.230.230", "start_pos": 230, "end_pos": 230, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs376213162", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376213162", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs376213162", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376213162", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs376213162", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376213162#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs376213162", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376213162", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "EQNHMIRTPSMRQEERYLDI", "down_seq": "ECILENYPECSNPRLFYIIP", "snv": [ { "evidence": [ { "id": "rs376213162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376213162" }, { "id": "rs376213162", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376213162" }, { "id": "rs376213162", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376213162#frequency_tab" }, { "id": "rs376213162", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376213162" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019146", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N230", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.210.210", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.231.231", "start_pos": 231, "end_pos": 231, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs779785562", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779785562", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779785562", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779785562", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779785562", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779785562#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs779785562", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779785562", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1775945405", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775945405", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775945405", "url": "https://www.ensembl.org/id/rs1775945405", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1180896803", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1180896803", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1180896803", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1180896803", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "QNHMIRTPSMRQEERYLDIN", "down_seq": "CILENYPECSNPRLFYIIPY", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs779785562", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779785562" }, { "id": "rs779785562", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779785562" }, { "id": "rs779785562", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779785562#frequency_tab" }, { "id": "rs779785562", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779785562" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149019150", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E231", "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" ] }, { "evidence": [ { "id": "rs1775945405", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775945405" }, { "id": "rs1775945405", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775945405" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019148", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E231", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1180896803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1180896803" }, { "id": "rs1180896803", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1180896803" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019149", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E231", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.251.251", "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": 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": "Q9Y2C2-1.232.232", "start_pos": 232, "end_pos": 232, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1043316083", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1043316083", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1043316083", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1043316083#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1043316083", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1043316083", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "NHMIRTPSMRQEERYLDINE", "down_seq": "ILENYPECSNPRLFYIIPYF", "snv": [ { "evidence": [ { "id": "rs1043316083", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1043316083" }, { "id": "rs1043316083", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1043316083#frequency_tab" }, { "id": "rs1043316083", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1043316083" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019152", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C232", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.251.251", "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": "Q9Y2C2-1.233.233", "start_pos": 233, "end_pos": 233, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1398461198", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398461198", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1398461198", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398461198", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "HMIRTPSMRQEERYLDINEC", "down_seq": "LENYPECSNPRLFYIIPYFC", "snv": [ { "evidence": [ { "id": "rs1398461198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398461198" }, { "id": "rs1398461198", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398461198" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019155", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I233", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.234.234", "start_pos": 234, "end_pos": 234, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs749053454", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749053454", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749053454", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749053454", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749053454", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749053454#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs749053454", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749053454", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "MIRTPSMRQEERYLDINECI", "down_seq": "ENYPECSNPRLFYIIPYFCG", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs749053454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749053454" }, { "id": "rs749053454", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749053454" }, { "id": "rs749053454", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749053454#frequency_tab" }, { "id": "rs749053454", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749053454" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149019157", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L234", "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", "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149019158", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L234", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.214.214", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.235.235", "start_pos": 235, "end_pos": 235, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768490502", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768490502", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768490502", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768490502", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768490502", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768490502#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs768490502", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768490502", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "IRTPSMRQEERYLDINECIL", "down_seq": "NYPECSNPRLFYIIPYFCGQ", "snv": [ { "evidence": [ { "id": "rs768490502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768490502" }, { "id": "rs768490502", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768490502" }, { "id": "rs768490502", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768490502#frequency_tab" }, { "id": "rs768490502", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768490502" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019160", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E235", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.255.255", "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": "Q9Y2C2-1.236.236", "start_pos": 236, "end_pos": 236, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs761721806", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761721806", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs761721806", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761721806", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs761721806", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761721806", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RTPSMRQEERYLDINECILE", "down_seq": "YPECSNPRLFYIIPYFCGQH", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs761721806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761721806" }, { "id": "rs761721806", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761721806" }, { "id": "rs761721806", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761721806" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149019165", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "N236", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.218.218", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.239.239", "start_pos": 239, "end_pos": 239, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775945845", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775945845", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775945845", "url": "https://www.ensembl.org/id/rs1775945845", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SMRQEERYLDINECILENYP", "down_seq": "CSNPRLFYIIPYFCGQHPRC", "snv": [ { "evidence": [ { "id": "rs1775945845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775945845" }, { "id": "rs1775945845", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775945845" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019172", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E239", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.219.219", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.221.221", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.23.23", "start_pos": 23, "end_pos": 23, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748602820", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748602820", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748602820", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748602820", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748602820", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748602820", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1775889391", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775889391", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775889391", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775889391#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1775889391", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1775889391", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "KKQQHPGGGADPWPHGAPMG", "down_seq": "APPGLGSWKRRVPLLPFLRF", "snv": [ { "evidence": [ { "id": "rs748602820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748602820" }, { "id": "rs748602820", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748602820" }, { "id": "rs748602820", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748602820" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747493", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G23", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748602820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748602820" }, { "id": "rs748602820", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748602820" }, { "id": "rs748602820", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748602820" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747498", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G23", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1775889391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775889391" }, { "id": "rs1775889391", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775889391#frequency_tab" }, { "id": "rs1775889391", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1775889391" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747497", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G23", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748602820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748602820" }, { "id": "rs748602820", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748602820" }, { "id": "rs748602820", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748602820" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747498", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G23", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.242.242", "start_pos": 242, "end_pos": 242, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs201994426", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201994426", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201994426", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201994426", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs201994426", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201994426", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QEERYLDINECILENYPECS", "down_seq": "PRLFYIIPYFCGQHPRCREP", "snv": [ { "evidence": [ { "id": "rs201994426", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201994426" }, { "id": "rs201994426", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201994426" }, { "id": "rs201994426", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201994426" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019181", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N242", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149019182", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N242", "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": "rs201994426", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201994426" }, { "id": "rs201994426", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201994426" }, { "id": "rs201994426", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201994426" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019181", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N242", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.223.223", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.262.262", "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": 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": "Q9Y2C2-1.248.248", "start_pos": 248, "end_pos": 248, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775945942", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775945942", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775945942", "url": "https://www.ensembl.org/id/rs1775945942", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "DINECILENYPECSNPRLFY", "down_seq": "IPYFCGQHPRCREPGEWALE", "snv": [ { "evidence": [ { "id": "rs1775945942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775945942" }, { "id": "rs1775945942", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775945942" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019200", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I248", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.228.228", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.249.249", "start_pos": 249, "end_pos": 249, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "INECILENYPECSNPRLFYI", "down_seq": "PYFCGQHPRCREPGEWALER", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149019202", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I249", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.229.229", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.24.24", "start_pos": 24, "end_pos": 24, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1253006859", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1253006859", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1253006859", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1253006859#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1253006859", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1253006859", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs902577433", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs902577433", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs902577433", "url": "https://www.ncbi.nlm.nih.gov/snp/rs902577433#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs902577433", "url": "http://gnomad.broadinstitute.org/awesome?query=rs902577433", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "KQQHPGGGADPWPHGAPMGG", "down_seq": "PPGLGSWKRRVPLLPFLRFS", "snv": [ { "evidence": [ { "id": "rs1253006859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1253006859" }, { "id": "rs1253006859", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1253006859#frequency_tab" }, { "id": "rs1253006859", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1253006859" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747501", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A24", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs902577433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs902577433" }, { "id": "rs902577433", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs902577433#frequency_tab" }, { "id": "rs902577433", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs902577433" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747500", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A24", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1253006859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1253006859" }, { "id": "rs1253006859", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1253006859#frequency_tab" }, { "id": "rs1253006859", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1253006859" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747501", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A24", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.250.250", "start_pos": 250, "end_pos": 250, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs777030313", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777030313", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777030313", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777030313", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs777030313", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777030313#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs777030313", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777030313", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs868606143", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868606143", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs868606143", "url": "https://www.ensembl.org/id/rs868606143", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "NECILENYPECSNPRLFYII", "down_seq": "YFCGQHPRCREPGEWALERA", "snv": [ { "evidence": [ { "id": "rs777030313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777030313" }, { "id": "rs777030313", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777030313" }, { "id": "rs777030313", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs777030313#frequency_tab" }, { "id": "rs777030313", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777030313" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019206", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P250", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "P", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149019206", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P250", "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": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs868606143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868606143" }, { "id": "rs868606143", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs868606143" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149019205", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P250", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.230.230", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": 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": 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": "Q9Y2C2-1.251.251", "start_pos": 251, "end_pos": 251, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775946559", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775946559", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775946559", "url": "https://www.ensembl.org/id/rs1775946559", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "ECILENYPECSNPRLFYIIP", "down_seq": "FCGQHPRCREPGEWALERAK", "snv": [ { "evidence": [ { "id": "rs1775946559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775946559" }, { "id": "rs1775946559", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775946559" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019209", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y251", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.231.231", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.253.253", "start_pos": 253, "end_pos": 253, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs765766194", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765766194", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765766194", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765766194", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765766194", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765766194", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "ILENYPECSNPRLFYIIPYF", "down_seq": "GQHPRCREPGEWALERAKLN", "snv": [ { "evidence": [ { "id": "rs765766194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765766194" }, { "id": "rs765766194", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765766194" }, { "id": "rs765766194", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765766194" } ], "glycoeffect": [], "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019215", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C253", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.233.233", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.254.254", "start_pos": 254, "end_pos": 254, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1014758584", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1014758584", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1014758584", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1014758584#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1014758584", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1014758584", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LENYPECSNPRLFYIIPYFC", "down_seq": "QHPRCREPGEWALERAKLNV", "snv": [ { "evidence": [ { "id": "rs1014758584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1014758584" }, { "id": "rs1014758584", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1014758584#frequency_tab" }, { "id": "rs1014758584", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1014758584" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019217", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G254", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.255.255", "start_pos": 255, "end_pos": 255, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1775946686", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775946686", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775946686", "url": "https://www.ensembl.org/id/rs1775946686", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "ENYPECSNPRLFYIIPYFCG", "down_seq": "HPRCREPGEWALERAKLNVN", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1775946686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775946686" }, { "id": "rs1775946686", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775946686" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149019220", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Q255", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.235.235", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.256.256", "start_pos": 256, "end_pos": 256, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775946750", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775946750", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775946750", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775946750#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1775946750", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1775946750", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "NYPECSNPRLFYIIPYFCGQ", "down_seq": "PRCREPGEWALERAKLNVNE", "snv": [ { "evidence": [ { "id": "rs1775946750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775946750" }, { "id": "rs1775946750", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775946750#frequency_tab" }, { "id": "rs1775946750", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1775946750" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019225", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H256", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149019223", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H256", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.257.257", "start_pos": 257, "end_pos": 257, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1457939616", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457939616", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1457939616", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457939616", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "YPECSNPRLFYIIPYFCGQH", "down_seq": "RCREPGEWALERAKLNVNEN", "snv": [ { "evidence": [ { "id": "rs1457939616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457939616" }, { "id": "rs1457939616", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457939616" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019226", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P257", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.258.258", "start_pos": 258, "end_pos": 258, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs200468831", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200468831", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200468831", "url": "https://www.ensembl.org/id/rs200468831", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PECSNPRLFYIIPYFCGQHP", "down_seq": "CREPGEWALERAKLNVNENF", "snv": [ { "evidence": [ { "id": "rs200468831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200468831" }, { "id": "rs200468831", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs200468831" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149019230", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R258", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.238.238", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.259.259", "start_pos": 259, "end_pos": 259, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs753184740", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753184740", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753184740", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753184740", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753184740", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753184740", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "ECSNPRLFYIIPYFCGQHPR", "down_seq": "REPGEWALERAKLNVNENFL", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs753184740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753184740" }, { "id": "rs753184740", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753184740" }, { "id": "rs753184740", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753184740" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "C", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149019233", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C259", "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": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "C", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149019233", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "C259", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.239.239", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.25.25", "start_pos": 25, "end_pos": 25, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "QQHPGGGADPWPHGAPMGGA", "down_seq": "PGLGSWKRRVPLLPFLRFSL", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747503", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P25", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.261.261", "start_pos": 261, "end_pos": 261, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775978603", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775978603", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775978603", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775978603#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SNPRLFYIIPYFCGQHPRCR", "down_seq": "PGEWALERAKLNVNENFLLV", "snv": [ { "evidence": [ { "id": "rs1775978603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775978603" }, { "id": "rs1775978603", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775978603#frequency_tab" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021326", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E261", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021325", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E261", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.281.281", "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": 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": "Q9Y2C2-1.262.262", "start_pos": 262, "end_pos": 262, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775978642", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775978642", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775978642", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1775978642", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "NPRLFYIIPYFCGQHPRCRE", "down_seq": "GEWALERAKLNVNENFLLVG", "snv": [ { "evidence": [ { "id": "rs1775978642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775978642" }, { "id": "rs1775978642", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1775978642" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021328", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P262", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.242.242", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.266.266", "start_pos": 266, "end_pos": 266, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775978818", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775978818", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775978818", "url": "https://www.ensembl.org/id/rs1775978818", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "FYIIPYFCGQHPRCREPGEW", "down_seq": "LERAKLNVNENFLLVGILEE", "snv": [ { "evidence": [ { "id": "rs1775978818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775978818" }, { "id": "rs1775978818", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775978818" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021340", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A266", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.268.268", "start_pos": 268, "end_pos": 268, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "IIPYFCGQHPRCREPGEWAL", "down_seq": "RAKLNVNENFLLVGILEELE", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021347", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E268", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.248.248", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.269.269", "start_pos": 269, "end_pos": 269, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IPYFCGQHPRCREPGEWALE", "down_seq": "AKLNVNENFLLVGILEELED", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021351", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R269", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.249.249", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.26.26", "start_pos": 26, "end_pos": 26, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1178196068", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178196068", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1178196068", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178196068", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "QHPGGGADPWPHGAPMGGAP", "down_seq": "GLGSWKRRVPLLPFLRFSLR", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1178196068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178196068" }, { "id": "rs1178196068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178196068" } ], "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, sulfotransferase).", "chr_id": "6", "chr_pos": "148747507", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P26", "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": "rs1178196068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178196068" }, { "id": "rs1178196068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178196068" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747507", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P26", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.270.270", "start_pos": 270, "end_pos": 270, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1775978933", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775978933", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775978933", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775978933#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "PYFCGQHPRCREPGEWALER", "down_seq": "KLNVNENFLLVGILEELEDV", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1775978933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775978933" }, { "id": "rs1775978933", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775978933#frequency_tab" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021352", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A270", "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", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.250.250", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.251.251", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.290.290", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.272.272", "start_pos": 272, "end_pos": 272, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs764478076", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764478076", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764478076", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764478076", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764478076", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764478076#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs764478076", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764478076", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "FCGQHPRCREPGEWALERAK", "down_seq": "NVNENFLLVGILEELEDVLL", "snv": [ { "evidence": [ { "id": "rs764478076", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764478076" }, { "id": "rs764478076", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764478076" }, { "id": "rs764478076", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764478076#frequency_tab" }, { "id": "rs764478076", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764478076" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021358", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L272", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.253.253", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.274.274", "start_pos": 274, "end_pos": 274, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs755609661", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755609661", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755609661", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755609661", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755609661", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755609661#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs755609661", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755609661", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "GQHPRCREPGEWALERAKLN", "down_seq": "NENFLLVGILEELEDVLLLL", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs755609661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755609661" }, { "id": "rs755609661", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755609661" }, { "id": "rs755609661", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755609661#frequency_tab" }, { "id": "rs755609661", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755609661" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021364", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V274", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.254.254", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.255.255", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.276.276", "start_pos": 276, "end_pos": 276, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2534028951", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2534028951", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "HPRCREPGEWALERAKLNVN", "down_seq": "NFLLVGILEELEDVLLLLER", "snv": [ { "evidence": [ { "id": "rs2534028951", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2534028951" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021372", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E276", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021370", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E276", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.256.256", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.296.296", "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": 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": "Q9Y2C2-1.277.277", "start_pos": 277, "end_pos": 277, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs576093321", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs576093321", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs576093321", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs576093321", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs576093321", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs576093321", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs576093321", "url": "https://www.ncbi.nlm.nih.gov/snp/rs576093321#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs576093321", "url": "http://gnomad.broadinstitute.org/awesome?query=rs576093321", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "PRCREPGEWALERAKLNVNE", "down_seq": "FLLVGILEELEDVLLLLERF", "snv": [ { "evidence": [ { "id": "rs576093321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs576093321" }, { "id": "rs576093321", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs576093321" }, { "id": "rs576093321", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs576093321" }, { "id": "rs576093321", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs576093321#frequency_tab" }, { "id": "rs576093321", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs576093321" } ], "glycoeffect": [], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021375", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N277", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.257.257", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.258.258", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.259.259", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.296.296", "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": "Q9Y2C2-1.27.27", "start_pos": 27, "end_pos": 27, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs188909023", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188909023", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1168883618", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1168883618", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1168883618", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1168883618#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1168883618", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1168883618", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs188909023", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs188909023", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs188909023", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188909023", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs188909023", "url": "https://www.ncbi.nlm.nih.gov/snp/rs188909023#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs188909023", "url": "http://gnomad.broadinstitute.org/awesome?query=rs188909023", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "HPGGGADPWPHGAPMGGAPP", "down_seq": "LGSWKRRVPLLPFLRFSLRD", "snv": [ { "evidence": [ { "id": "rs188909023", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188909023" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747509", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G27", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1168883618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1168883618" }, { "id": "rs1168883618", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1168883618#frequency_tab" }, { "id": "rs1168883618", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1168883618" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747510", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G27", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs188909023", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188909023" }, { "id": "rs188909023", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs188909023" }, { "id": "rs188909023", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs188909023" }, { "id": "rs188909023", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs188909023#frequency_tab" }, { "id": "rs188909023", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs188909023" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747509", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G27", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.280.280", "start_pos": 280, "end_pos": 280, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "REPGEWALERAKLNVNENFL", "down_seq": "VGILEELEDVLLLLERFLPH", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021382", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L280", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.281.281", "start_pos": 281, "end_pos": 281, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs754638085", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754638085", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754638085", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754638085", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs754638085", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754638085#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs754638085", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754638085", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "EPGEWALERAKLNVNENFLL", "down_seq": "GILEELEDVLLLLERFLPHY", "snv": [ { "evidence": [ { "id": "rs754638085", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754638085" }, { "id": "rs754638085", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754638085" }, { "id": "rs754638085", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754638085#frequency_tab" }, { "id": "rs754638085", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754638085" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021385", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V281", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs754638085", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754638085" }, { "id": "rs754638085", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754638085" }, { "id": "rs754638085", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754638085#frequency_tab" }, { "id": "rs754638085", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754638085" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021385", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V281", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.261.261", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.282.282", "start_pos": 282, "end_pos": 282, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "PGEWALERAKLNVNENFLLV", "down_seq": "ILEELEDVLLLLERFLPHYF", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021388", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G282", "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": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021388", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G282", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.262.262", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.284.284", "start_pos": 284, "end_pos": 284, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "EWALERAKLNVNENFLLVGI", "down_seq": "EELEDVLLLLERFLPHYFKG", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021394", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L284", "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": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021394", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L284", "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: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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.286.286", "start_pos": 286, "end_pos": 286, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs747923042", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747923042", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs747923042", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747923042", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs747923042", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747923042", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "ALERAKLNVNENFLLVGILE", "down_seq": "LEDVLLLLERFLPHYFKGVL", "snv": [ { "evidence": [ { "id": "rs747923042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747923042" }, { "id": "rs747923042", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747923042" }, { "id": "rs747923042", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747923042" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021400", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E286", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.266.266", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.287.287", "start_pos": 287, "end_pos": 287, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "LERAKLNVNENFLLVGILEE", "down_seq": "EDVLLLLERFLPHYFKGVLS", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021405", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L287", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.288.288", "start_pos": 288, "end_pos": 288, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs940422315", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs940422315", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs940422315", "url": "https://www.ncbi.nlm.nih.gov/snp/rs940422315#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs940422315", "url": "http://gnomad.broadinstitute.org/awesome?query=rs940422315", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "ERAKLNVNENFLLVGILEEL", "down_seq": "DVLLLLERFLPHYFKGVLSI", "snv": [ { "evidence": [ { "id": "rs940422315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs940422315" }, { "id": "rs940422315", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs940422315#frequency_tab" }, { "id": "rs940422315", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs940422315" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021406", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E288", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.268.268", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.289.289", "start_pos": 289, "end_pos": 289, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775979614", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775979614", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775979614", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775979614#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RAKLNVNENFLLVGILEELE", "down_seq": "VLLLLERFLPHYFKGVLSIY", "snv": [ { "evidence": [ { "id": "rs1775979614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775979614" }, { "id": "rs1775979614", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775979614#frequency_tab" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021410", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D289", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021409", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D289", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.269.269", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.28.28", "start_pos": 28, "end_pos": 28, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1476553948", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1476553948", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1476553948", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1476553948#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1476553948", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1476553948", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs745417412", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745417412", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs745417412", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745417412", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs745417412", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745417412", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "PGGGADPWPHGAPMGGAPPG", "down_seq": "GSWKRRVPLLPFLRFSLRDY", "snv": [ { "evidence": [ { "id": "rs1476553948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1476553948" }, { "id": "rs1476553948", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1476553948#frequency_tab" }, { "id": "rs1476553948", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1476553948" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747513", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L28", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745417412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745417412" }, { "id": "rs745417412", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745417412" }, { "id": "rs745417412", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745417412" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747512", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L28", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.290.290", "start_pos": 290, "end_pos": 290, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775979670", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775979670", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775979670", "url": "https://www.ensembl.org/id/rs1775979670", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "AKLNVNENFLLVGILEELED", "down_seq": "LLLLERFLPHYFKGVLSIYK", "snv": [ { "evidence": [ { "id": "rs1775979670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775979670" }, { "id": "rs1775979670", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775979670" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021413", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V290", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.270.270", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.292.292", "start_pos": 292, "end_pos": 292, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "LNVNENFLLVGILEELEDVL", "down_seq": "LLERFLPHYFKGVLSIYKDP", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021419", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "L292", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.272.272", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.274.274", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.295.295", "start_pos": 295, "end_pos": 295, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs374656093", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374656093", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs374656093", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374656093#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs374656093", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374656093", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs771070448", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771070448", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771070448", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771070448", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771070448", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771070448", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "NENFLLVGILEELEDVLLLL", "down_seq": "RFLPHYFKGVLSIYKDPEHR", "snv": [ { "evidence": [ { "id": "rs374656093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374656093" }, { "id": "rs374656093", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374656093#frequency_tab" }, { "id": "rs374656093", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374656093" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021427", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E295", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771070448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771070448" }, { "id": "rs771070448", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771070448" }, { "id": "rs771070448", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771070448" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021428", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E295", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374656093", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374656093" }, { "id": "rs374656093", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374656093#frequency_tab" }, { "id": "rs374656093", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374656093" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021427", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E295", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.315.315", "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": 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": "Q9Y2C2-1.296.296", "start_pos": 296, "end_pos": 296, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ENFLLVGILEELEDVLLLLE", "down_seq": "FLPHYFKGVLSIYKDPEHRK", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021431", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R296", "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": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021431", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R296", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.276.276", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.277.277", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.315.315", "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": 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": "Q9Y2C2-1.299.299", "start_pos": 299, "end_pos": 299, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1037349646", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1037349646", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1037349646", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1037349646#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LLVGILEELEDVLLLLERFL", "down_seq": "HYFKGVLSIYKDPEHRKLGN", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021440", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P299", "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": "rs1037349646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1037349646" }, { "id": "rs1037349646", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1037349646#frequency_tab" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021440", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P299", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.319.319", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": "Q9Y2C2-1.29.29", "start_pos": 29, "end_pos": 29, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1465158912", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465158912", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1465158912", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1465158912#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1465158912", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1465158912", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "GGGADPWPHGAPMGGAPPGL", "down_seq": "SWKRRVPLLPFLRFSLRDYG", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1465158912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465158912" }, { "id": "rs1465158912", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1465158912#frequency_tab" }, { "id": "rs1465158912", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1465158912" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747516", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G29", "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", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.49.49", "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": "Q9Y2C2-1.2.2", "start_pos": 2, "end_pos": 2, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1170332379", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170332379", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1170332379", "url": "https://www.ensembl.org/id/rs1170332379", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "M", "down_seq": "KKQQHPGGGADPWPHGAPMG", "snv": [ { "evidence": [ { "id": "rs1170332379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170332379" }, { "id": "rs1170332379", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1170332379" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747435", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.300.300", "start_pos": 300, "end_pos": 300, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1232590170", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232590170", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1232590170", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1232590170#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LVGILEELEDVLLLLERFLP", "down_seq": "YFKGVLSIYKDPEHRKLGNM", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "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, sulfotransferase).", "chr_id": "6", "chr_pos": "149021443", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "H300", "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": "rs1232590170", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232590170" }, { "id": "rs1232590170", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1232590170#frequency_tab" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021442", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H300", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.280.280", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.301.301", "start_pos": 301, "end_pos": 301, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2115020071", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2115020071", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2115020071", "url": "https://www.ensembl.org/id/rs2115020071", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "VGILEELEDVLLLLERFLPH", "down_seq": "FKGVLSIYKDPEHRKLGNMT", "snv": [ { "evidence": [ { "id": "rs2115020071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2115020071" }, { "id": "rs2115020071", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2115020071" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021445", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y301", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.281.281", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.282.282", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.321.321", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.303.303", "start_pos": 303, "end_pos": 303, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1360940107", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1360940107", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1360940107", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1360940107", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1775980202", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775980202", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775980202", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775980202#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ILEELEDVLLLLERFLPHYF", "down_seq": "GVLSIYKDPEHRKLGNMTVT", "snv": [ { "evidence": [ { "id": "rs1360940107", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1360940107" }, { "id": "rs1360940107", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1360940107" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021453", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K303", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1775980202", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775980202" }, { "id": "rs1775980202", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775980202#frequency_tab" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021451", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K303", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.304.304", "start_pos": 304, "end_pos": 304, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1042389862", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1042389862", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1042389862", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1042389862#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1042389862", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1042389862", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LEELEDVLLLLERFLPHYFK", "down_seq": "VLSIYKDPEHRKLGNMTVTV", "snv": [ { "evidence": [ { "id": "rs1042389862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1042389862" }, { "id": "rs1042389862", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1042389862#frequency_tab" }, { "id": "rs1042389862", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1042389862" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021455", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G304", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.284.284", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.307.307", "start_pos": 307, "end_pos": 307, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1396078402", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1396078402", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1396078402", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1396078402", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LEDVLLLLERFLPHYFKGVL", "down_seq": "IYKDPEHRKLGNMTVTVKKT", "snv": [ { "evidence": [ { "id": "rs1396078402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1396078402" }, { "id": "rs1396078402", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1396078402" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021463", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S307", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.288.288", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.327.327", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.309.309", "start_pos": 309, "end_pos": 309, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775980540", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775980540", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775980540", "url": "https://www.ensembl.org/id/rs1775980540", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "DVLLLLERFLPHYFKGVLSI", "down_seq": "KDPEHRKLGNMTVTVKKTVP", "snv": [ { "evidence": [ { "id": "rs1775980540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775980540" }, { "id": "rs1775980540", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775980540" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021469", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y309", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.289.289", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.290.290", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.30.30", "start_pos": 30, "end_pos": 30, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2533461484", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2533461484", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GGADPWPHGAPMGGAPPGLG", "down_seq": "WKRRVPLLPFLRFSLRDYGF", "snv": [ { "evidence": [ { "id": "rs2533461484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2533461484" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747518", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S30", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [ "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: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747519", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S30", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.49.49", "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": [ "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": "Q9Y2C2-1.311.311", "start_pos": 311, "end_pos": 311, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1775980574", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775980574", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775980574", "url": "https://www.ensembl.org/id/rs1775980574", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LLLLERFLPHYFKGVLSIYK", "down_seq": "PEHRKLGNMTVTVKKTVPSP", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "D", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149021475", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D311", "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" ] }, { "evidence": [ { "id": "rs1775980574", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775980574" }, { "id": "rs1775980574", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775980574" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021475", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D311", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.312.312", "start_pos": 312, "end_pos": 312, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775980599", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775980599", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775980599", "url": "https://www.ensembl.org/id/rs1775980599", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LLLERFLPHYFKGVLSIYKD", "down_seq": "EHRKLGNMTVTVKKTVPSPE", "snv": [ { "evidence": [ { "id": "rs1775980599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775980599" }, { "id": "rs1775980599", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775980599" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149021479", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P312", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.292.292", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.313.313", "start_pos": 313, "end_pos": 313, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs201103793", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201103793", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201103793", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201103793", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs201103793", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201103793#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs201103793", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201103793", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "LLERFLPHYFKGVLSIYKDP", "down_seq": "HRKLGNMTVTVKKTVPSPEA", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs201103793", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201103793" }, { "id": "rs201103793", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201103793" }, { "id": "rs201103793", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201103793#frequency_tab" }, { "id": "rs201103793", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201103793" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073833", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E313", "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", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.314.314", "start_pos": 314, "end_pos": 314, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs749593902", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749593902", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749593902", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749593902", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749593902", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749593902", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LERFLPHYFKGVLSIYKDPE", "down_seq": "RKLGNMTVTVKKTVPSPEAV", "snv": [ { "evidence": [ { "id": "rs749593902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749593902" }, { "id": "rs749593902", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749593902" }, { "id": "rs749593902", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749593902" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073835", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H314", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.315.315", "start_pos": 315, "end_pos": 315, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs373613479", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373613479", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs373613479", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373613479", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs373613479", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373613479#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs373613479", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373613479", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ERFLPHYFKGVLSIYKDPEH", "down_seq": "KLGNMTVTVKKTVPSPEAVQ", "snv": [ { "evidence": [ { "id": "rs373613479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373613479" }, { "id": "rs373613479", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373613479" }, { "id": "rs373613479", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373613479#frequency_tab" }, { "id": "rs373613479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373613479" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073839", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R315", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373613479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373613479" }, { "id": "rs373613479", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373613479" }, { "id": "rs373613479", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373613479#frequency_tab" }, { "id": "rs373613479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373613479" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073839", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R315", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373613479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373613479" }, { "id": "rs373613479", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373613479" }, { "id": "rs373613479", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373613479#frequency_tab" }, { "id": "rs373613479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373613479" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073839", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R315", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.295.295", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.296.296", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.317.317", "start_pos": 317, "end_pos": 317, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs762258626", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762258626", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs762258626", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762258626", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs762258626", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762258626", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "FLPHYFKGVLSIYKDPEHRK", "down_seq": "GNMTVTVKKTVPSPEAVQIL", "snv": [ { "evidence": [ { "id": "rs762258626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762258626" }, { "id": "rs762258626", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762258626" }, { "id": "rs762258626", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762258626" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073844", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L317", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.318.318", "start_pos": 318, "end_pos": 318, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1303245564", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303245564", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1303245564", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1303245564#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LPHYFKGVLSIYKDPEHRKL", "down_seq": "NMTVTVKKTVPSPEAVQILY", "snv": [ { "evidence": [ { "id": "rs1303245564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303245564" }, { "id": "rs1303245564", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1303245564#frequency_tab" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073847", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G318", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.299.299", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.338.338", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.31.31", "start_pos": 31, "end_pos": 31, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs895182985", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs895182985", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs895182985", "url": "https://www.ensembl.org/id/rs895182985", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "GADPWPHGAPMGGAPPGLGS", "down_seq": "KRRVPLLPFLRFSLRDYGFC", "snv": [ { "evidence": [ { "id": "rs895182985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs895182985" }, { "id": "rs895182985", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs895182985" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747521", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W31", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.320.320", "start_pos": 320, "end_pos": 320, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs772598777", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772598777", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772598777", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772598777", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772598777", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772598777", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "HYFKGVLSIYKDPEHRKLGN", "down_seq": "TVTVKKTVPSPEAVQILYQR", "snv": [ { "evidence": [ { "id": "rs772598777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772598777" }, { "id": "rs772598777", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772598777" }, { "id": "rs772598777", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772598777" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073854", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M320", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.300.300", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.301.301", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.322.322", "start_pos": 322, "end_pos": 322, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs905550145", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs905550145", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs905550145", "url": "https://www.ensembl.org/id/rs905550145", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "FKGVLSIYKDPEHRKLGNMT", "down_seq": "TVKKTVPSPEAVQILYQRMR", "snv": [ { "evidence": [ { "id": "rs905550145", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs905550145" }, { "id": "rs905550145", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs905550145" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073859", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V322", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.303.303", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.324.324", "start_pos": 324, "end_pos": 324, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "GVLSIYKDPEHRKLGNMTVT", "down_seq": "KKTVPSPEAVQILYQRMRYE", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073866", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "V324", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.304.304", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.326.326", "start_pos": 326, "end_pos": 326, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LSIYKDPEHRKLGNMTVTVK", "down_seq": "TVPSPEAVQILYQRMRYEYE", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073873", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K326", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.327.327", "start_pos": 327, "end_pos": 327, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SIYKDPEHRKLGNMTVTVKK", "down_seq": "VPSPEAVQILYQRMRYEYEF", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [ "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: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073875", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T327", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.307.307", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.347.347", "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": "Q9Y2C2-1.328.328", "start_pos": 328, "end_pos": 328, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1433342684", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1433342684", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1433342684", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1433342684", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "IYKDPEHRKLGNMTVTVKKT", "down_seq": "PSPEAVQILYQRMRYEYEFY", "snv": [ { "evidence": [ { "id": "rs1433342684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1433342684" }, { "id": "rs1433342684", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1433342684" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073877", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V328", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.347.347", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.329.329", "start_pos": 329, "end_pos": 329, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "YKDPEHRKLGNMTVTVKKTV", "down_seq": "SPEAVQILYQRMRYEYEFYH", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073880", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P329", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.309.309", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.330.330", "start_pos": 330, "end_pos": 330, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KDPEHRKLGNMTVTVKKTVP", "down_seq": "PEAVQILYQRMRYEYEFYHY", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "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, sulfotransferase).", "chr_id": "6", "chr_pos": "149073884", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S330", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.331.331", "start_pos": 331, "end_pos": 331, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs764858360", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764858360", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764858360", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764858360", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764858360", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764858360", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1562346694", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562346694", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1562346694", "url": "https://www.ensembl.org/id/rs1562346694", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "DPEHRKLGNMTVTVKKTVPS", "down_seq": "EAVQILYQRMRYEYEFYHYV", "snv": [ { "evidence": [ { "id": "rs764858360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764858360" }, { "id": "rs764858360", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764858360" }, { "id": "rs764858360", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764858360" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073887", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P331", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1562346694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562346694" }, { "id": "rs1562346694", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1562346694" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073886", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P331", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.312.312", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.333.333", "start_pos": 333, "end_pos": 333, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "EHRKLGNMTVTVKKTVPSPE", "down_seq": "VQILYQRMRYEYEFYHYVKE", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "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, sulfotransferase).", "chr_id": "6", "chr_pos": "149073893", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A333", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.313.313", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.334.334", "start_pos": 334, "end_pos": 334, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1389871273", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389871273", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1389871273", "url": "https://www.ensembl.org/id/rs1389871273", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "HRKLGNMTVTVKKTVPSPEA", "down_seq": "QILYQRMRYEYEFYHYVKEQ", "snv": [ { "evidence": [ { "id": "rs1389871273", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389871273" }, { "id": "rs1389871273", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1389871273" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073895", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V334", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.335.335", "start_pos": 335, "end_pos": 335, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "RKLGNMTVTVKKTVPSPEAV", "down_seq": "ILYQRMRYEYEFYHYVKEQF", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "Q", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073898", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Q335", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.315.315", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.355.355", "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": "Q9Y2C2-1.336.336", "start_pos": 336, "end_pos": 336, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1468810798", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468810798", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1468810798", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1468810798#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1468810798", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1468810798", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "KLGNMTVTVKKTVPSPEAVQ", "down_seq": "LYQRMRYEYEFYHYVKEQFH", "snv": [ { "evidence": [ { "id": "rs1468810798", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1468810798" }, { "id": "rs1468810798", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1468810798#frequency_tab" }, { "id": "rs1468810798", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1468810798" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073901", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I336", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.317.317", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.355.355", "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": "Q9Y2C2-1.338.338", "start_pos": 338, "end_pos": 338, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1403031260", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1403031260", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1403031260", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1403031260", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "GNMTVTVKKTVPSPEAVQIL", "down_seq": "QRMRYEYEFYHYVKEQFHLL", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "9251", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073908", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y338", "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" ] }, { "evidence": [ { "id": "rs1403031260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1403031260" }, { "id": "rs1403031260", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1403031260" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073907", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y338", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.318.318", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.339.339", "start_pos": 339, "end_pos": 339, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1225358875", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1225358875", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1225358875", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1225358875", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "NMTVTVKKTVPSPEAVQILY", "down_seq": "RMRYEYEFYHYVKEQFHLLK", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073910", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q339", "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": "rs1225358875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1225358875" }, { "id": "rs1225358875", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1225358875" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073911", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q339", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.319.319", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.359.359", "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": 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": "Q9Y2C2-1.33.33", "start_pos": 33, "end_pos": 33, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs769229603", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769229603", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs769229603", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769229603", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs769229603", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769229603#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs769229603", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769229603", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DPWPHGAPMGGAPPGLGSWK", "down_seq": "RVPLLPFLRFSLRDYGFCMA", "snv": [ { "evidence": [ { "id": "rs769229603", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769229603" }, { "id": "rs769229603", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769229603" }, { "id": "rs769229603", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769229603#frequency_tab" }, { "id": "rs769229603", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769229603" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747528", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R33", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.53.53", "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": "Q9Y2C2-1.340.340", "start_pos": 340, "end_pos": 340, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs143435511", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143435511", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs143435511", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143435511", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs143435511", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143435511#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs143435511", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143435511", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs199808069", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199808069", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs199808069", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199808069", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs199808069", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199808069#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs199808069", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199808069", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MTVTVKKTVPSPEAVQILYQ", "down_seq": "MRYEYEFYHYVKEQFHLLKR", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs143435511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143435511" }, { "id": "rs143435511", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143435511" }, { "id": "rs143435511", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143435511#frequency_tab" }, { "id": "rs143435511", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143435511" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073914", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R340", "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" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs199808069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199808069" }, { "id": "rs199808069", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199808069" }, { "id": "rs199808069", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199808069#frequency_tab" }, { "id": "rs199808069", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199808069" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073913", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R340", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.320.320", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.341.341", "start_pos": 341, "end_pos": 341, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs751432219", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751432219", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751432219", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751432219", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751432219", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751432219", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "TVTVKKTVPSPEAVQILYQR", "down_seq": "RYEYEFYHYVKEQFHLLKRK", "snv": [ { "evidence": [ { "id": "rs751432219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751432219" }, { "id": "rs751432219", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751432219" }, { "id": "rs751432219", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751432219" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073916", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M341", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.321.321", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.342.342", "start_pos": 342, "end_pos": 342, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1281591624", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1281591624", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1281591624", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1281591624", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VTVKKTVPSPEAVQILYQRM", "down_seq": "YEYEFYHYVKEQFHLLKRKF", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073920", "ref_nt": "G", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1281591624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1281591624" }, { "id": "rs1281591624", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1281591624" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073920", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R342", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.322.322", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.323.323", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.324.324", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.346.346", "start_pos": 346, "end_pos": 346, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs373816508", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373816508", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs373816508", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373816508", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs373816508", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373816508#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs373816508", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373816508", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "KTVPSPEAVQILYQRMRYEY", "down_seq": "FYHYVKEQFHLLKRKFGLKS", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073931", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E346", "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": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs373816508", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373816508" }, { "id": "rs373816508", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373816508" }, { "id": "rs373816508", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373816508#frequency_tab" }, { "id": "rs373816508", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373816508" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073931", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E346", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.326.326", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.347.347", "start_pos": 347, "end_pos": 347, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1776853798", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776853798", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1776853798", "url": "https://www.ensembl.org/id/rs1776853798", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "TVPSPEAVQILYQRMRYEYE", "down_seq": "YHYVKEQFHLLKRKFGLKSH", "snv": [ { "evidence": [ { "id": "rs1776853798", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776853798" }, { "id": "rs1776853798", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776853798" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073936", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F347", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.327.327", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.328.328", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.349.349", "start_pos": 349, "end_pos": 349, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1309125193", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1309125193", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1309125193", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1309125193", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1427322054", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1427322054", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1427322054", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1427322054#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1427322054", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1427322054", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "PSPEAVQILYQRMRYEYEFY", "down_seq": "YVKEQFHLLKRKFGLKSHVS", "snv": [ { "evidence": [ { "id": "rs1309125193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1309125193" }, { "id": "rs1309125193", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1309125193" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073942", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H349", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1427322054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1427322054" }, { "id": "rs1427322054", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1427322054#frequency_tab" }, { "id": "rs1427322054", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1427322054" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073940", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H349", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.329.329", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.330.330", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.368.368", "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": 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": "Q9Y2C2-1.34.34", "start_pos": 34, "end_pos": 34, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2114635412", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2114635412", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2114635412", "url": "https://www.ensembl.org/id/rs2114635412", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1486064463", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486064463", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1486064463", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1486064463#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PWPHGAPMGGAPPGLGSWKR", "down_seq": "VPLLPFLRFSLRDYGFCMAT", "snv": [ { "evidence": [ { "id": "rs2114635412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2114635412" }, { "id": "rs2114635412", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2114635412" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747530", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R34", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1486064463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486064463" }, { "id": "rs1486064463", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1486064463#frequency_tab" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747531", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R34", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.351.351", "start_pos": 351, "end_pos": 351, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs780188457", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780188457", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780188457", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780188457", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780188457", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780188457#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs780188457", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780188457", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "PEAVQILYQRMRYEYEFYHY", "down_seq": "KEQFHLLKRKFGLKSHVSKP", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "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, sulfotransferase).", "chr_id": "6", "chr_pos": "149073947", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "V351", "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": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs780188457", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780188457" }, { "id": "rs780188457", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780188457" }, { "id": "rs780188457", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780188457#frequency_tab" }, { "id": "rs780188457", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780188457" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073946", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V351", "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", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.331.331", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.352.352", "start_pos": 352, "end_pos": 352, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1488676860", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1488676860", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1488676860", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1488676860", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "EAVQILYQRMRYEYEFYHYV", "down_seq": "EQFHLLKRKFGLKSHVSKPP", "snv": [ { "evidence": [ { "id": "rs1488676860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1488676860" }, { "id": "rs1488676860", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1488676860" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073949", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K352", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1488676860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1488676860" }, { "id": "rs1488676860", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1488676860" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073949", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K352", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.353.353", "start_pos": 353, "end_pos": 353, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1489494195", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1489494195", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1489494195", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1489494195#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "AVQILYQRMRYEYEFYHYVK", "down_seq": "QFHLLKRKFGLKSHVSKPPL", "snv": [ { "evidence": [ { "id": "rs1489494195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1489494195" }, { "id": "rs1489494195", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1489494195#frequency_tab" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073952", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E353", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "E", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073952", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "E353", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.354.354", "start_pos": 354, "end_pos": 354, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1277690181", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1277690181", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1277690181", "url": "https://www.ensembl.org/id/rs1277690181", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "VQILYQRMRYEYEFYHYVKE", "down_seq": "FHLLKRKFGLKSHVSKPPLR", "snv": [ { "evidence": [ { "id": "rs1277690181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1277690181" }, { "id": "rs1277690181", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1277690181" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073955", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q354", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.334.334", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.355.355", "start_pos": 355, "end_pos": 355, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1776854422", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776854422", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1776854422", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776854422#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1776854366", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776854366", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1776854366", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776854366", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "QILYQRMRYEYEFYHYVKEQ", "down_seq": "HLLKRKFGLKSHVSKPPLRP", "snv": [ { "evidence": [ { "id": "rs1776854422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776854422" }, { "id": "rs1776854422", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776854422#frequency_tab" }, { "id": "rs1776854366", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776854366" }, { "id": "rs1776854366", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776854366" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073960", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F355", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.335.335", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.336.336", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.357.357", "start_pos": 357, "end_pos": 357, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs749410624", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749410624", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749410624", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749410624", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749410624", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749410624", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "LYQRMRYEYEFYHYVKEQFH", "down_seq": "LKRKFGLKSHVSKPPLRPHF", "snv": [ { "evidence": [ { "id": "rs749410624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749410624" }, { "id": "rs749410624", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749410624" }, { "id": "rs749410624", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749410624" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073965", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L357", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.338.338", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.377.377", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.359.359", "start_pos": 359, "end_pos": 359, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1582987740", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582987740", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1582987740", "url": "https://www.ensembl.org/id/rs1582987740", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs768941288", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768941288", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768941288", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768941288", "database": "ExAC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QRMRYEYEFYHYVKEQFHLL", "down_seq": "RKFGLKSHVSKPPLRPHFFI", "snv": [ { "evidence": [ { "id": "rs1582987740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582987740" }, { "id": "rs1582987740", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582987740" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073971", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K359", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768941288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768941288" }, { "id": "rs768941288", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768941288" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073972", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K359", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.35.35", "start_pos": 35, "end_pos": 35, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs775187633", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775187633", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775187633", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775187633", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775187633", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775187633", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1221686744", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221686744", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1221686744", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1221686744", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "WPHGAPMGGAPPGLGSWKRR", "down_seq": "PLLPFLRFSLRDYGFCMATL", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs775187633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775187633" }, { "id": "rs775187633", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775187633" }, { "id": "rs775187633", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775187633" } ], "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, sulfotransferase).", "chr_id": "6", "chr_pos": "148747534", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "V35", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs775187633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775187633" }, { "id": "rs775187633", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775187633" }, { "id": "rs775187633", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775187633" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747534", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V35", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1221686744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1221686744" }, { "id": "rs1221686744", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1221686744" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747533", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V35", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.360.360", "start_pos": 360, "end_pos": 360, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs370216214", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370216214", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs370216214", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370216214", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs370216214", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370216214#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs370216214", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370216214", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs61740852", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61740852", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs61740852", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61740852", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs61740852", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61740852", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs61740852", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61740852#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs61740852", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61740852", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RMRYEYEFYHYVKEQFHLLK", "down_seq": "KFGLKSHVSKPPLRPHFFIP", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs370216214", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370216214" }, { "id": "rs370216214", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370216214" }, { "id": "rs370216214", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370216214#frequency_tab" }, { "id": "rs370216214", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370216214" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073973", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R360", "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", "germline" ] }, { "evidence": [ { "id": "rs61740852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61740852" }, { "id": "rs61740852", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs61740852" }, { "id": "rs61740852", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs61740852" }, { "id": "rs61740852", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs61740852#frequency_tab" }, { "id": "rs61740852", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs61740852" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073974", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R360", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.340.340", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.361.361", "start_pos": 361, "end_pos": 361, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1257314255", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257314255", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1257314255", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1257314255#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1257314255", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1257314255", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1562346761", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562346761", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1562346761", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1562346761", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "MRYEYEFYHYVKEQFHLLKR", "down_seq": "FGLKSHVSKPPLRPHFFIPT", "snv": [ { "evidence": [ { "id": "rs1257314255", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257314255" }, { "id": "rs1257314255", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1257314255#frequency_tab" }, { "id": "rs1257314255", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1257314255" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073976", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K361", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1562346761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1562346761" }, { "id": "rs1562346761", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1562346761" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073977", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K361", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.341.341", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.364.364", "start_pos": 364, "end_pos": 364, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs373395926", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373395926", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs373395926", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373395926", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs373395926", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373395926", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs373395926", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373395926#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs373395926", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373395926", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "EYEFYHYVKEQFHLLKRKFG", "down_seq": "KSHVSKPPLRPHFFIPTPLE", "snv": [ { "evidence": [ { "id": "rs373395926", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373395926" }, { "id": "rs373395926", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373395926" }, { "id": "rs373395926", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373395926" }, { "id": "rs373395926", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373395926#frequency_tab" }, { "id": "rs373395926", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373395926" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073985", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "L364", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.366.366", "start_pos": 366, "end_pos": 366, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs377719815", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377719815", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs377719815", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377719815", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs377719815", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377719815#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs377719815", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377719815", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EFYHYVKEQFHLLKRKFGLK", "down_seq": "HVSKPPLRPHFFIPTPLETE", "snv": [ { "evidence": [ { "id": "rs377719815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377719815" }, { "id": "rs377719815", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377719815" }, { "id": "rs377719815", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs377719815#frequency_tab" }, { "id": "rs377719815", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377719815" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073992", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S366", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.346.346", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.367.367", "start_pos": 367, "end_pos": 367, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775089527", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775089527", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775089527", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775089527", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775089527", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775089527", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs772324432", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772324432", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772324432", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772324432#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs772324432", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772324432", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "FYHYVKEQFHLLKRKFGLKS", "down_seq": "VSKPPLRPHFFIPTPLETEE", "snv": [ { "evidence": [ { "id": "rs775089527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775089527" }, { "id": "rs775089527", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775089527" }, { "id": "rs775089527", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775089527" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073994", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H367", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772324432", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772324432" }, { "id": "rs772324432", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772324432#frequency_tab" }, { "id": "rs772324432", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772324432" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073996", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H367", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149073994", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H367", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.347.347", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.387.387", "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": 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": "Q9Y2C2-1.368.368", "start_pos": 368, "end_pos": 368, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs200672795", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200672795", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200672795", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200672795", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200672795", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200672795#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs200672795", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200672795", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "YHYVKEQFHLLKRKFGLKSH", "down_seq": "SKPPLRPHFFIPTPLETEEP", "snv": [ { "evidence": [ { "id": "rs200672795", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200672795" }, { "id": "rs200672795", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200672795" }, { "id": "rs200672795", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200672795#frequency_tab" }, { "id": "rs200672795", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200672795" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149073997", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V368", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.349.349", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.36.36", "start_pos": 36, "end_pos": 36, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1236922199", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1236922199", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1236922199", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1236922199", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PHGAPMGGAPPGLGSWKRRV", "down_seq": "LLPFLRFSLRDYGFCMATLL", "snv": [ { "evidence": [ { "id": "rs1236922199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1236922199" }, { "id": "rs1236922199", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1236922199" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747536", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P36", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1236922199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1236922199" }, { "id": "rs1236922199", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1236922199" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747536", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P36", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.56.56", "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": 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": "Q9Y2C2-1.370.370", "start_pos": 370, "end_pos": 370, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs200339078", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200339078", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200339078", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200339078", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs200339078", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200339078#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs200339078", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200339078", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "YVKEQFHLLKRKFGLKSHVS", "down_seq": "PPLRPHFFIPTPLETEEPID", "snv": [ { "evidence": [ { "id": "rs200339078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200339078" }, { "id": "rs200339078", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200339078" }, { "id": "rs200339078", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200339078#frequency_tab" }, { "id": "rs200339078", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200339078" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074005", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "K370", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.371.371", "start_pos": 371, "end_pos": 371, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1582987773", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582987773", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1582987773", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1582987773", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs763772175", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763772175", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763772175", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763772175", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763772175", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763772175#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs763772175", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763772175", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "VKEQFHLLKRKFGLKSHVSK", "down_seq": "PLRPHFFIPTPLETEEPIDD", "snv": [ { "evidence": [ { "id": "rs1582987773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582987773" }, { "id": "rs1582987773", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1582987773" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074006", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P371", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763772175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763772175" }, { "id": "rs763772175", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763772175" }, { "id": "rs763772175", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763772175#frequency_tab" }, { "id": "rs763772175", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763772175" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074007", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P371", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763772175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763772175" }, { "id": "rs763772175", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763772175" }, { "id": "rs763772175", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763772175#frequency_tab" }, { "id": "rs763772175", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763772175" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074007", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P371", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763772175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763772175" }, { "id": "rs763772175", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763772175" }, { "id": "rs763772175", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763772175#frequency_tab" }, { "id": "rs763772175", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763772175" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074007", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P371", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1582987773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582987773" }, { "id": "rs1582987773", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1582987773" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074006", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P371", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.351.351", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.372.372", "start_pos": 372, "end_pos": 372, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1776855537", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776855537", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1776855537", "url": "https://www.ensembl.org/id/rs1776855537", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs372785635", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372785635", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs372785635", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372785635", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs372785635", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372785635#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs372785635", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372785635", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KEQFHLLKRKFGLKSHVSKP", "down_seq": "LRPHFFIPTPLETEEPIDDE", "snv": [ { "evidence": [ { "id": "rs1776855537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776855537" }, { "id": "rs1776855537", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776855537" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074009", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P372", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372785635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372785635" }, { "id": "rs372785635", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372785635" }, { "id": "rs372785635", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372785635#frequency_tab" }, { "id": "rs372785635", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372785635" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074010", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P372", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372785635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372785635" }, { "id": "rs372785635", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372785635" }, { "id": "rs372785635", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372785635#frequency_tab" }, { "id": "rs372785635", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372785635" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074010", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P372", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372785635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372785635" }, { "id": "rs372785635", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372785635" }, { "id": "rs372785635", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372785635#frequency_tab" }, { "id": "rs372785635", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372785635" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074010", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P372", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.352.352", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.373.373", "start_pos": 373, "end_pos": 373, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs760552029", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760552029", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs755048718", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755048718", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755048718", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755048718", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755048718", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755048718#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs755048718", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755048718", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs748426056", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748426056", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748426056", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748426056", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748426056", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748426056#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs748426056", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748426056", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "EQFHLLKRKFGLKSHVSKPP", "down_seq": "RPHFFIPTPLETEEPIDDEE", "snv": [ { "evidence": [ { "id": "rs760552029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760552029" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074006", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L373", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs755048718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755048718" }, { "id": "rs755048718", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755048718" }, { "id": "rs755048718", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755048718#frequency_tab" }, { "id": "rs755048718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755048718" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149074012", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L373", "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": "rs748426056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748426056" }, { "id": "rs748426056", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748426056" }, { "id": "rs748426056", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748426056#frequency_tab" }, { "id": "rs748426056", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748426056" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074013", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L373", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755048718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755048718" }, { "id": "rs755048718", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755048718" }, { "id": "rs755048718", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755048718#frequency_tab" }, { "id": "rs755048718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755048718" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074012", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L373", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.353.353", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.375.375", "start_pos": 375, "end_pos": 375, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1776855833", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776855833", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1776855833", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776855833#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "FHLLKRKFGLKSHVSKPPLR", "down_seq": "HFFIPTPLETEEPIDDEEQD", "snv": [ { "evidence": [ { "id": "rs1776855833", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776855833" }, { "id": "rs1776855833", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776855833#frequency_tab" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074018", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P375", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.355.355", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.395.395", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.376.376", "start_pos": 376, "end_pos": 376, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1289347550", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289347550", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1289347550", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289347550", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "HLLKRKFGLKSHVSKPPLRP", "down_seq": "FFIPTPLETEEPIDDEEQDD", "snv": [ { "evidence": [ { "id": "rs1289347550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289347550" }, { "id": "rs1289347550", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289347550" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074022", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H376", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.396.396", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.377.377", "start_pos": 377, "end_pos": 377, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "LLKRKFGLKSHVSKPPLRPH", "down_seq": "FIPTPLETEEPIDDEEQDDE", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149074024", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F377", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.357.357", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.379.379", "start_pos": 379, "end_pos": 379, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1776855898", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776855898", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1776855898", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776855898#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "KRKFGLKSHVSKPPLRPHFF", "down_seq": "PTPLETEEPIDDEEQDDEKW", "snv": [ { "evidence": [ { "id": "rs1776855898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776855898" }, { "id": "rs1776855898", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776855898#frequency_tab" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074030", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I379", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.359.359", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.360.360", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.37.37", "start_pos": 37, "end_pos": 37, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1449207366", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1449207366", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1449207366", "url": "https://www.ensembl.org/id/rs1449207366", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "HGAPMGGAPPGLGSWKRRVP", "down_seq": "LPFLRFSLRDYGFCMATLLV", "snv": [ { "evidence": [ { "id": "rs1449207366", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1449207366" }, { "id": "rs1449207366", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1449207366" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747540", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L37", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.56.56", "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": "Q9Y2C2-1.381.381", "start_pos": 381, "end_pos": 381, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs758756696", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758756696", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758756696", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758756696", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758756696", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758756696#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs758756696", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758756696", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1216887182", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216887182", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1216887182", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1216887182#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1216887182", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1216887182", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KFGLKSHVSKPPLRPHFFIP", "down_seq": "PLETEEPIDDEEQDDEKWLE", "snv": [ { "evidence": [ { "id": "rs758756696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758756696" }, { "id": "rs758756696", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758756696" }, { "id": "rs758756696", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758756696#frequency_tab" }, { "id": "rs758756696", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758756696" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074036", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T381", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1216887182", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1216887182" }, { "id": "rs1216887182", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1216887182#frequency_tab" }, { "id": "rs1216887182", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1216887182" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074037", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T381", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.361.361", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.382.382", "start_pos": 382, "end_pos": 382, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1243550496", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243550496", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1243550496", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243550496", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "FGLKSHVSKPPLRPHFFIPT", "down_seq": "LETEEPIDDEEQDDEKWLED", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1243550496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1243550496" }, { "id": "rs1243550496", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1243550496" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149074040", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P382", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.364.364", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.402.402", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.385.385", "start_pos": 385, "end_pos": 385, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1776856131", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776856131", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1776856131", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776856131#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1776856131", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776856131", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KSHVSKPPLRPHFFIPTPLE", "down_seq": "EEPIDDEEQDDEKWLEDIYK", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149074048", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T385", "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" ] }, { "evidence": [ { "id": "rs1776856131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776856131" }, { "id": "rs1776856131", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776856131#frequency_tab" }, { "id": "rs1776856131", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776856131" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074049", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T385", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.404.404", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.386.386", "start_pos": 386, "end_pos": 386, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1415111046", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415111046", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1415111046", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415111046", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SHVSKPPLRPHFFIPTPLET", "down_seq": "EPIDDEEQDDEKWLEDIYKR", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1415111046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415111046" }, { "id": "rs1415111046", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415111046" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149074051", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E386", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.366.366", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.406.406", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.387.387", "start_pos": 387, "end_pos": 387, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1776856249", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776856249", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1776856249", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776856249#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1447002627", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1447002627", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1447002627", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1447002627", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1776856282", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776856282", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1776856282", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776856282#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "HVSKPPLRPHFFIPTPLETE", "down_seq": "PIDDEEQDDEKWLEDIYKR", "snv": [ { "evidence": [ { "id": "rs1776856249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776856249" }, { "id": "rs1776856249", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776856249#frequency_tab" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074054", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E387", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1447002627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1447002627" }, { "id": "rs1447002627", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1447002627" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074056", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E387", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149074054", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E387", "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": "rs1776856282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776856282" }, { "id": "rs1776856282", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1776856282#frequency_tab" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074055", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E387", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.367.367", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.406.406", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.388.388", "start_pos": 388, "end_pos": 388, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs771501304", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771501304", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771501304", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771501304", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771501304", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771501304#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs771501304", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771501304", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "VSKPPLRPHFFIPTPLETEE", "down_seq": "IDDEEQDDEKWLEDIYKR", "snv": [ { "evidence": [ { "id": "rs771501304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771501304" }, { "id": "rs771501304", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771501304" }, { "id": "rs771501304", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771501304#frequency_tab" }, { "id": "rs771501304", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771501304" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074058", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P388", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149074058", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P388", "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" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149074057", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P388", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.368.368", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.406.406", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": 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": 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": "Q9Y2C2-1.389.389", "start_pos": 389, "end_pos": 389, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1776856423", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776856423", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1776856423", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776856423", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs777045855", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777045855", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs777045855", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777045855", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs777045855", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777045855", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "SKPPLRPHFFIPTPLETEEP", "down_seq": "DDEEQDDEKWLEDIYKR", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1776856423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776856423" }, { "id": "rs1776856423", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1776856423" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149074061", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I389", "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: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" ] }, { "evidence": [ { "id": "rs777045855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777045855" }, { "id": "rs777045855", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777045855" }, { "id": "rs777045855", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs777045855" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074060", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I389", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.406.406", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.390.390", "start_pos": 390, "end_pos": 390, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs368381676", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368381676", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs368381676", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368381676", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs368381676", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368381676#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs368381676", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368381676", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KPPLRPHFFIPTPLETEEPI", "down_seq": "DEEQDDEKWLEDIYKR", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs368381676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368381676" }, { "id": "rs368381676", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368381676" }, { "id": "rs368381676", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368381676#frequency_tab" }, { "id": "rs368381676", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368381676" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149074063", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D390", "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": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149074063", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D390", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.370.370", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.406.406", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.391.391", "start_pos": 391, "end_pos": 391, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1430064691", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1430064691", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1430064691", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1430064691#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1430064691", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1430064691", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PPLRPHFFIPTPLETEEPID", "down_seq": "EEQDDEKWLEDIYKR", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1430064691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1430064691" }, { "id": "rs1430064691", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1430064691#frequency_tab" }, { "id": "rs1430064691", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1430064691" } ], "glycoeffect": [], "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149074066", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D391", "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" } ] }, { "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.371.371", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.372.372", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.406.406", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.393.393", "start_pos": 393, "end_pos": 393, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1582987838", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582987838", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1582987838", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1582987838#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "LRPHFFIPTPLETEEPIDDE", "down_seq": "QDDEKWLEDIYKR", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149074072", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E393", "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": "rs1582987838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582987838" }, { "id": "rs1582987838", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1582987838#frequency_tab" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074072", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E393", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.406.406", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.395.395", "start_pos": 395, "end_pos": 395, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1379737747", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1379737747", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1379737747", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1379737747#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1379737747", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1379737747", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PHFFIPTPLETEEPIDDEEQ", "down_seq": "DEKWLEDIYKR", "snv": [ { "evidence": [ { "id": "rs1379737747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1379737747" }, { "id": "rs1379737747", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1379737747#frequency_tab" }, { "id": "rs1379737747", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1379737747" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074079", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D395", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1379737747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1379737747" }, { "id": "rs1379737747", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1379737747#frequency_tab" }, { "id": "rs1379737747", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1379737747" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074079", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D395", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.375.375", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.406.406", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.396.396", "start_pos": 396, "end_pos": 396, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs761564850", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761564850", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs761564850", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761564850", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs761564850", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761564850", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1776856878", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776856878", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1776856878", "url": "https://www.ensembl.org/id/rs1776856878", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "HFFIPTPLETEEPIDDEEQD", "down_seq": "EKWLEDIYKR", "snv": [ { "evidence": [ { "id": "rs761564850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761564850" }, { "id": "rs761564850", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761564850" }, { "id": "rs761564850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761564850" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074083", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D396", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776856878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776856878" }, { "id": "rs1776856878", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776856878" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074081", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D396", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.376.376", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.406.406", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.397.397", "start_pos": 397, "end_pos": 397, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1776857001", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776857001", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1776857001", "url": "https://www.ensembl.org/id/rs1776857001", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1776856974", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776856974", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1776856974", "url": "https://www.ensembl.org/id/rs1776856974", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs374068714", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374068714", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs374068714", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374068714", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs374068714", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374068714", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "FFIPTPLETEEPIDDEEQDD", "down_seq": "KWLEDIYKR", "snv": [ { "evidence": [ { "id": "rs1776857001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776857001" }, { "id": "rs1776857001", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776857001" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074085", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E397", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1776856974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1776856974" }, { "id": "rs1776856974", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1776856974" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "G*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074084_149074085ins", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E397", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374068714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374068714" }, { "id": "rs374068714", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374068714" }, { "id": "rs374068714", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374068714" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074084", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E397", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.406.406", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.399.399", "start_pos": 399, "end_pos": 399, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1292515839", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1292515839", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1292515839", "url": "https://www.ensembl.org/id/rs1292515839", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1358454051", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1358454051", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1358454051", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1358454051", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "IPTPLETEEPIDDEEQDDEK", "down_seq": "LEDIYKR", "snv": [ { "evidence": [ { "id": "rs1292515839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1292515839" }, { "id": "rs1292515839", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1292515839" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074092", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W399", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1358454051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1358454051" }, { "id": "rs1358454051", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1358454051" } ], "glycoeffect": [], "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074090", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W399", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.406.406", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.39.39", "start_pos": 39, "end_pos": 39, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1269463514", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1269463514", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1269463514", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1269463514#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1269463514", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1269463514", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "APMGGAPPGLGSWKRRVPLL", "down_seq": "FLRFSLRDYGFCMATLLVFC", "snv": [ { "evidence": [ { "id": "rs1269463514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1269463514" }, { "id": "rs1269463514", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1269463514#frequency_tab" }, { "id": "rs1269463514", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1269463514" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747546", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P39", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.401.401", "start_pos": 401, "end_pos": 401, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs79448062", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79448062", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs79448062", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79448062", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs79448062", "url": "http://gnomad.broadinstitute.org/awesome?query=rs79448062", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "TPLETEEPIDDEEQDDEKWL", "down_seq": "DIYKR", "snv": [ { "evidence": [ { "id": "rs79448062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79448062" }, { "id": "rs79448062", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs79448062" }, { "id": "rs79448062", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs79448062" } ], "glycoeffect": [], "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074097", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E401", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.381.381", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.406.406", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.402.402", "start_pos": 402, "end_pos": 402, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs760485806", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760485806", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760485806", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760485806", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760485806", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760485806#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs760485806", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760485806", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PLETEEPIDDEEQDDEKWLE", "down_seq": "IYKR", "snv": [ { "evidence": [ { "id": "rs760485806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760485806" }, { "id": "rs760485806", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760485806" }, { "id": "rs760485806", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760485806#frequency_tab" }, { "id": "rs760485806", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760485806" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074099", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D402", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.382.382", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.406.406", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.403.403", "start_pos": 403, "end_pos": 403, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs766305796", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766305796", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766305796", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766305796", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766305796", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766305796", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "LETEEPIDDEEQDDEKWLED", "down_seq": "YKR", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149074104", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I403", "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": "rs766305796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766305796" }, { "id": "rs766305796", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766305796" }, { "id": "rs766305796", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766305796" } ], "glycoeffect": [], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074103", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I403", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.406.406", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.404.404", "start_pos": 404, "end_pos": 404, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "ETEEPIDDEEQDDEKWLEDI", "down_seq": "KR", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "149074106", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y404", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.406.406", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.406.406", "start_pos": 406, "end_pos": 406, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1658822252", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1658822252", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1658822252", "url": "https://www.ensembl.org/id/rs1658822252", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EEPIDDEEQDDEKWLEDIYK", "down_seq": "", "snv": [ { "evidence": [ { "id": "rs1658822252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1658822252" }, { "id": "rs1658822252", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1658822252" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "149074112", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R406", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.387.387", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.388.388", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.389.389", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.391.391", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.393.393", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.396.396", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.397.397", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.401.401", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.404.404", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.40.40", "start_pos": 40, "end_pos": 40, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768437031", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768437031", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768437031", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768437031", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768437031", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768437031#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs768437031", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768437031", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "PMGGAPPGLGSWKRRVPLLP", "down_seq": "LRFSLRDYGFCMATLLVFCL", "snv": [ { "evidence": [ { "id": "rs768437031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768437031" }, { "id": "rs768437031", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768437031" }, { "id": "rs768437031", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768437031#frequency_tab" }, { "id": "rs768437031", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768437031" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747548", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F40", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.42.42", "start_pos": 42, "end_pos": 42, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1178290844", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178290844", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1178290844", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178290844", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs370525461", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370525461", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs370525461", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370525461", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs370525461", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370525461#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs370525461", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370525461", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GGAPPGLGSWKRRVPLLPFL", "down_seq": "FSLRDYGFCMATLLVFCLGS", "snv": [ { "evidence": [ { "id": "rs1178290844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178290844" }, { "id": "rs1178290844", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178290844" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747555", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R42", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1178290844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1178290844" }, { "id": "rs1178290844", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1178290844" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747555", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R42", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs370525461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370525461" }, { "id": "rs370525461", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370525461" }, { "id": "rs370525461", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs370525461#frequency_tab" }, { "id": "rs370525461", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs370525461" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747554", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R42", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.61.61", "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": 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": "Q9Y2C2-1.43.43", "start_pos": 43, "end_pos": 43, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1253835370", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1253835370", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1253835370", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1253835370#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1253835370", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1253835370", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs772017285", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772017285", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772017285", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772017285", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772017285", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772017285#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs772017285", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772017285", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "GAPPGLGSWKRRVPLLPFLR", "down_seq": "SLRDYGFCMATLLVFCLGSL", "snv": [ { "evidence": [ { "id": "rs1253835370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1253835370" }, { "id": "rs1253835370", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1253835370#frequency_tab" }, { "id": "rs1253835370", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1253835370" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747557", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F43", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772017285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772017285" }, { "id": "rs772017285", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772017285" }, { "id": "rs772017285", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772017285#frequency_tab" }, { "id": "rs772017285", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772017285" }, { "id": "rs1253835370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1253835370" }, { "id": "rs1253835370", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1253835370#frequency_tab" }, { "id": "rs1253835370", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1253835370" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747559", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F43", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.63.63", "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": 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": "Q9Y2C2-1.44.44", "start_pos": 44, "end_pos": 44, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1423057505", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1423057505", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1423057505", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1423057505#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1423057505", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1423057505", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1192695386", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1192695386", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1192695386", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1192695386", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "APPGLGSWKRRVPLLPFLRF", "down_seq": "LRDYGFCMATLLVFCLGSLL", "snv": [ { "evidence": [ { "id": "rs1423057505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1423057505" }, { "id": "rs1423057505", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1423057505#frequency_tab" }, { "id": "rs1423057505", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1423057505" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747561", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S44", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1423057505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1423057505" }, { "id": "rs1423057505", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1423057505#frequency_tab" }, { "id": "rs1423057505", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1423057505" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747561", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S44", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1192695386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1192695386" }, { "id": "rs1192695386", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1192695386" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747560", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S44", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.63.63", "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": 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": "Q9Y2C2-1.45.45", "start_pos": 45, "end_pos": 45, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs760773852", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760773852", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760773852", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760773852", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760773852", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760773852#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs760773852", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760773852", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "PPGLGSWKRRVPLLPFLRFS", "down_seq": "RDYGFCMATLLVFCLGSLLY", "snv": [ { "evidence": [ { "id": "rs760773852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760773852" }, { "id": "rs760773852", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760773852" }, { "id": "rs760773852", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760773852#frequency_tab" }, { "id": "rs760773852", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760773852" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747564", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L45", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.46.46", "start_pos": 46, "end_pos": 46, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1463575585", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463575585", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1463575585", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1463575585#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1463575585", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463575585", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1355798525", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355798525", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1355798525", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1355798525", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PGLGSWKRRVPLLPFLRFSL", "down_seq": "DYGFCMATLLVFCLGSLLYQ", "snv": [ { "evidence": [ { "id": "rs1463575585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463575585" }, { "id": "rs1463575585", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1463575585#frequency_tab" }, { "id": "rs1463575585", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463575585" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747567", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R46", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1463575585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463575585" }, { "id": "rs1463575585", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1463575585#frequency_tab" }, { "id": "rs1463575585", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463575585" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747567", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R46", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1355798525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355798525" }, { "id": "rs1355798525", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1355798525" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747566", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R46", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.66.66", "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": 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": "Q9Y2C2-1.47.47", "start_pos": 47, "end_pos": 47, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1419972549", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419972549", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1419972549", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419972549", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1410940477", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410940477", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1410940477", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1410940477#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1410940477", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1410940477", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GLGSWKRRVPLLPFLRFSLR", "down_seq": "YGFCMATLLVFCLGSLLYQL", "snv": [ { "evidence": [ { "id": "rs1419972549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419972549" }, { "id": "rs1419972549", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419972549" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747570", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D47", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1410940477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410940477" }, { "id": "rs1410940477", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1410940477#frequency_tab" }, { "id": "rs1410940477", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1410940477" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747569", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D47", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1410940477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410940477" }, { "id": "rs1410940477", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1410940477#frequency_tab" }, { "id": "rs1410940477", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1410940477" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747569", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D47", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.48.48", "start_pos": 48, "end_pos": 48, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs766415442", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766415442", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766415442", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766415442", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766415442", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766415442", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1394742121", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1394742121", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1394742121", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1394742121", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LGSWKRRVPLLPFLRFSLRD", "down_seq": "GFCMATLLVFCLGSLLYQLS", "snv": [ { "evidence": [ { "id": "rs766415442", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766415442" }, { "id": "rs766415442", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766415442" }, { "id": "rs766415442", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766415442" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747574", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y48", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1394742121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1394742121" }, { "id": "rs1394742121", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1394742121" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747573", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y48", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.68.68", "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": 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": "Q9Y2C2-1.49.49", "start_pos": 49, "end_pos": 49, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs759900568", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759900568", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759900568", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759900568", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759900568", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759900568#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs759900568", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759900568", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs202057866", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202057866", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs202057866", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202057866", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs202057866", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202057866", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs202057866", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202057866#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs202057866", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202057866", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "GSWKRRVPLLPFLRFSLRDY", "down_seq": "FCMATLLVFCLGSLLYQLSG", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747575", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G49", "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" ] }, { "evidence": [ { "id": "rs759900568", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759900568" }, { "id": "rs759900568", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759900568" }, { "id": "rs759900568", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759900568#frequency_tab" }, { "id": "rs759900568", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759900568" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747576", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G49", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs202057866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202057866" }, { "id": "rs202057866", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202057866" }, { "id": "rs202057866", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202057866" }, { "id": "rs202057866", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202057866#frequency_tab" }, { "id": "rs202057866", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202057866" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747575", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "G49", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs202057866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202057866" }, { "id": "rs202057866", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202057866" }, { "id": "rs202057866", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202057866" }, { "id": "rs202057866", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202057866#frequency_tab" }, { "id": "rs202057866", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202057866" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747575", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G49", "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": "rs759900568", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759900568" }, { "id": "rs759900568", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759900568" }, { "id": "rs759900568", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759900568#frequency_tab" }, { "id": "rs759900568", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759900568" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747576", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G49", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.29.29", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.30.30", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.69.69", "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": 5 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_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": 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": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.4.4", "start_pos": 4, "end_pos": 4, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs199870664", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199870664", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs199870664", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199870664", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs199870664", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199870664", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs199870664", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199870664#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs199870664", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199870664", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "MKK", "down_seq": "QQHPGGGADPWPHGAPMGGA", "snv": [ { "evidence": [ { "id": "rs199870664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199870664" }, { "id": "rs199870664", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199870664" }, { "id": "rs199870664", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199870664" }, { "id": "rs199870664", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs199870664#frequency_tab" }, { "id": "rs199870664", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199870664" } ], "glycoeffect": [], "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747440", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.000784929", "site_lbl": "K4", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.24.24", "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": "Q9Y2C2-1.51.51", "start_pos": 51, "end_pos": 51, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "WKRRVPLLPFLRFSLRDYGF", "down_seq": "MATLLVFCLGSLLYQLSGGP", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "C", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747583", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "C51", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.31.31", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.52.52", "start_pos": 52, "end_pos": 52, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs988253102", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs988253102", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs988253102", "url": "https://www.ncbi.nlm.nih.gov/snp/rs988253102#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs988253102", "url": "http://gnomad.broadinstitute.org/awesome?query=rs988253102", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs955340501", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs955340501", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs955340501", "url": "https://www.ncbi.nlm.nih.gov/snp/rs955340501#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs955340501", "url": "http://gnomad.broadinstitute.org/awesome?query=rs955340501", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1298316914", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1298316914", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1298316914", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1298316914", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "KRRVPLLPFLRFSLRDYGFC", "down_seq": "ATLLVFCLGSLLYQLSGGPP", "snv": [ { "evidence": [ { "id": "rs988253102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs988253102" }, { "id": "rs988253102", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs988253102#frequency_tab" }, { "id": "rs988253102", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs988253102" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747586", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M52", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs955340501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs955340501" }, { "id": "rs955340501", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs955340501#frequency_tab" }, { "id": "rs955340501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs955340501" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747585", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M52", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1298316914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1298316914" }, { "id": "rs1298316914", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1298316914" } ], "glycoeffect": [], "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747584", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M52", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.72.72", "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": 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": "Q9Y2C2-1.53.53", "start_pos": 53, "end_pos": 53, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1167051686", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1167051686", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1167051686", "url": "https://www.ensembl.org/id/rs1167051686", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RRVPLLPFLRFSLRDYGFCM", "down_seq": "TLLVFCLGSLLYQLSGGPPR", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747587", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A53", "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" ] }, { "evidence": [ { "id": "rs1167051686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1167051686" }, { "id": "rs1167051686", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1167051686" } ], "glycoeffect": [], "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747588", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A53", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.33.33", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.54.54", "start_pos": 54, "end_pos": 54, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs138003460", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138003460", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs138003460", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138003460", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs138003460", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138003460", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs138003460", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138003460#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs138003460", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138003460", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1412051369", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412051369", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1412051369", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1412051369#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1412051369", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1412051369", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RVPLLPFLRFSLRDYGFCMA", "down_seq": "LLVFCLGSLLYQLSGGPPRF", "snv": [ { "evidence": [ { "id": "rs138003460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138003460" }, { "id": "rs138003460", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138003460" }, { "id": "rs138003460", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138003460" }, { "id": "rs138003460", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138003460#frequency_tab" }, { "id": "rs138003460", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138003460" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747591", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "T54", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [ "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: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747591", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T54", "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": "rs1412051369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412051369" }, { "id": "rs1412051369", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1412051369#frequency_tab" }, { "id": "rs1412051369", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1412051369" }, { "id": "rs138003460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138003460" }, { "id": "rs138003460", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138003460" }, { "id": "rs138003460", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138003460" }, { "id": "rs138003460", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138003460#frequency_tab" }, { "id": "rs138003460", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138003460" } ], "glycoeffect": [], "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747590", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T54", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.34.34", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.35.35", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.56.56", "start_pos": 56, "end_pos": 56, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs758936282", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758936282", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758936282", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758936282", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758936282", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758936282", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "PLLPFLRFSLRDYGFCMATL", "down_seq": "VFCLGSLLYQLSGGPPRFLL", "snv": [ { "evidence": [ { "id": "rs758936282", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758936282" }, { "id": "rs758936282", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758936282" }, { "id": "rs758936282", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758936282" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747596", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L56", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.36.36", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.37.37", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.76.76", "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": "Q9Y2C2-1.58.58", "start_pos": 58, "end_pos": 58, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1164895344", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164895344", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1164895344", "url": "https://www.ensembl.org/id/rs1164895344", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "LPFLRFSLRDYGFCMATLLV", "down_seq": "CLGSLLYQLSGGPPRFLLDL", "snv": [ { "evidence": [ { "id": "rs1164895344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1164895344" }, { "id": "rs1164895344", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1164895344" } ], "glycoeffect": [], "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747602", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F58", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.59.59", "start_pos": 59, "end_pos": 59, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1469990354", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469990354", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1469990354", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1469990354#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1469990354", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469990354", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "PFLRFSLRDYGFCMATLLVF", "down_seq": "LGSLLYQLSGGPPRFLLDLR", "snv": [ { "evidence": [ { "id": "rs1469990354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469990354" }, { "id": "rs1469990354", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1469990354#frequency_tab" }, { "id": "rs1469990354", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469990354" } ], "glycoeffect": [], "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747606", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C59", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.39.39", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.5.5", "start_pos": 5, "end_pos": 5, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs896254325", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs896254325", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs896254325", "url": "https://www.ncbi.nlm.nih.gov/snp/rs896254325#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs896254325", "url": "http://gnomad.broadinstitute.org/awesome?query=rs896254325", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "MKKK", "down_seq": "QHPGGGADPWPHGAPMGGAP", "snv": [ { "evidence": [ { "id": "rs896254325", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs896254325" }, { "id": "rs896254325", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs896254325#frequency_tab" }, { "id": "rs896254325", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs896254325" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747443", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q5", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.61.61", "start_pos": 61, "end_pos": 61, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1469639942", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469639942", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1469639942", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1469639942#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LRFSLRDYGFCMATLLVFCL", "down_seq": "SLLYQLSGGPPRFLLDLRQY", "snv": [ { "evidence": [ { "id": "rs1469639942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469639942" }, { "id": "rs1469639942", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1469639942#frequency_tab" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747611", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G61", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.42.42", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.63.63", "start_pos": 63, "end_pos": 63, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748903730", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748903730", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748903730", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748903730", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748903730", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748903730#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs748903730", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748903730", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "FSLRDYGFCMATLLVFCLGS", "down_seq": "LYQLSGGPPRFLLDLRQYLG", "snv": [ { "evidence": [ { "id": "rs748903730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748903730" }, { "id": "rs748903730", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748903730" }, { "id": "rs748903730", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748903730#frequency_tab" }, { "id": "rs748903730", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748903730" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747617", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L63", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.43.43", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.44.44", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.65.65", "start_pos": 65, "end_pos": 65, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768310578", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768310578", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768310578", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768310578", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768310578", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768310578", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LRDYGFCMATLLVFCLGSLL", "down_seq": "QLSGGPPRFLLDLRQYLGNS", "snv": [ { "evidence": [ { "id": "rs768310578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768310578" }, { "id": "rs768310578", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768310578" }, { "id": "rs768310578", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768310578" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747624", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y65", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.45.45", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "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": "Q9Y2C2-1.66.66", "start_pos": 66, "end_pos": 66, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775894596", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775894596", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775894596", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775894596#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1417862928", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1417862928", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1417862928", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1417862928", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "RDYGFCMATLLVFCLGSLLY", "down_seq": "LSGGPPRFLLDLRQYLGNST", "snv": [ { "evidence": [ { "id": "rs1775894596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775894596" }, { "id": "rs1775894596", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775894596#frequency_tab" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747626", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q66", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1417862928", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1417862928" }, { "id": "rs1417862928", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1417862928" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747628", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q66", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.46.46", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.67.67", "start_pos": 67, "end_pos": 67, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1406752377", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406752377", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1406752377", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1406752377", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "DYGFCMATLLVFCLGSLLYQ", "down_seq": "SGGPPRFLLDLRQYLGNSTY", "snv": [ { "evidence": [ { "id": "rs1406752377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406752377" }, { "id": "rs1406752377", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1406752377" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747629", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L67", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.47.47", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.68.68", "start_pos": 68, "end_pos": 68, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs778628284", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778628284", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778628284", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778628284", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778628284", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778628284", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs747967878", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747967878", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs747967878", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747967878", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs747967878", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747967878#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs747967878", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747967878", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YGFCMATLLVFCLGSLLYQL", "down_seq": "GGPPRFLLDLRQYLGNSTYL", "snv": [ { "evidence": [ { "id": "rs778628284", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778628284" }, { "id": "rs778628284", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778628284" }, { "id": "rs778628284", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778628284" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747633", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S68", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747967878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747967878" }, { "id": "rs747967878", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747967878" }, { "id": "rs747967878", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747967878#frequency_tab" }, { "id": "rs747967878", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747967878" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747634", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S68", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.48.48", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "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": 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": "Q9Y2C2-1.69.69", "start_pos": 69, "end_pos": 69, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs771890812", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771890812", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771890812", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771890812", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771890812", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771890812", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "GFCMATLLVFCLGSLLYQLS", "down_seq": "GPPRFLLDLRQYLGNSTYLD", "snv": [ { "evidence": [ { "id": "rs771890812", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771890812" }, { "id": "rs771890812", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771890812" }, { "id": "rs771890812", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771890812" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747635", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G69", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771890812", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771890812" }, { "id": "rs771890812", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771890812" }, { "id": "rs771890812", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771890812" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747635", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G69", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.49.49", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "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": "Q9Y2C2-1.6.6", "start_pos": 6, "end_pos": 6, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs993184259", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs993184259", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs993184259", "url": "https://www.ncbi.nlm.nih.gov/snp/rs993184259#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "MKKKQ", "down_seq": "HPGGGADPWPHGAPMGGAPP", "snv": [ { "evidence": [ { "id": "rs993184259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs993184259" }, { "id": "rs993184259", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs993184259#frequency_tab" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747448", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q6", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.70.70", "start_pos": 70, "end_pos": 70, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1582784177", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582784177", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1582784177", "url": "https://www.ensembl.org/id/rs1582784177", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs374662380", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374662380", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs374662380", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374662380", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs374662380", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374662380#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs374662380", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374662380", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "FCMATLLVFCLGSLLYQLSG", "down_seq": "PPRFLLDLRQYLGNSTYLDD", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1582784177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1582784177" }, { "id": "rs1582784177", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1582784177" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747639", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G70", "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": "rs374662380", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374662380" }, { "id": "rs374662380", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374662380" }, { "id": "rs374662380", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374662380#frequency_tab" }, { "id": "rs374662380", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374662380" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747638", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G70", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "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": "Q9Y2C2-1.71.71", "start_pos": 71, "end_pos": 71, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs45490997", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45490997", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs45490997", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs45490997", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs45490997", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45490997", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs45490997", "url": "https://www.ncbi.nlm.nih.gov/snp/rs45490997#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs45490997", "url": "http://gnomad.broadinstitute.org/awesome?query=rs45490997", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1294977623", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294977623", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1294977623", "url": "https://www.ensembl.org/id/rs1294977623", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "CMATLLVFCLGSLLYQLSGG", "down_seq": "PRFLLDLRQYLGNSTYLDDH", "snv": [ { "evidence": [ { "id": "rs45490997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45490997" }, { "id": "rs45490997", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs45490997" }, { "id": "rs45490997", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45490997" }, { "id": "rs45490997", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs45490997#frequency_tab" }, { "id": "rs45490997", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs45490997" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747642", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P71", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs45490997", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45490997" }, { "id": "rs45490997", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs45490997" }, { "id": "rs45490997", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs45490997" }, { "id": "rs45490997", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs45490997#frequency_tab" }, { "id": "rs45490997", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs45490997" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747642", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P71", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1294977623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1294977623" }, { "id": "rs1294977623", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1294977623" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747641", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P71", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.51.51", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.91.91", "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": 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": "Q9Y2C2-1.72.72", "start_pos": 72, "end_pos": 72, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775896388", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775896388", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775896388", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775896388#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs148792963", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148792963", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs148792963", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148792963", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs148792963", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148792963", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs148792963", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148792963#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs148792963", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148792963", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "MATLLVFCLGSLLYQLSGGP", "down_seq": "RFLLDLRQYLGNSTYLDDHG", "snv": [ { "evidence": [ { "id": "rs1775896388", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775896388" }, { "id": "rs1775896388", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775896388#frequency_tab" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747645", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P72", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs148792963", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148792963" }, { "id": "rs148792963", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148792963" }, { "id": "rs148792963", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148792963" }, { "id": "rs148792963", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148792963#frequency_tab" }, { "id": "rs148792963", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148792963" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747644", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P72", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.52.52", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.92.92", "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": 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": "Q9Y2C2-1.73.73", "start_pos": 73, "end_pos": 73, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1443900449", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1443900449", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1443900449", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1443900449#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1443900449", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1443900449", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1289382438", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289382438", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1289382438", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1289382438#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1289382438", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289382438", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ATLLVFCLGSLLYQLSGGPP", "down_seq": "FLLDLRQYLGNSTYLDDHGP", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs1443900449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1443900449" }, { "id": "rs1443900449", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1443900449#frequency_tab" }, { "id": "rs1443900449", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1443900449" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747647", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R73", "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" ] }, { "evidence": [ { "id": "rs1289382438", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289382438" }, { "id": "rs1289382438", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1289382438#frequency_tab" }, { "id": "rs1289382438", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289382438" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747648", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R73", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747647", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R73", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.92.92", "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": 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": "Q9Y2C2-1.75.75", "start_pos": 75, "end_pos": 75, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs368482150", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368482150", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs368482150", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368482150#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "LLVFCLGSLLYQLSGGPPRF", "down_seq": "LDLRQYLGNSTYLDDHGPPP", "snv": [ { "evidence": [ { "id": "rs368482150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368482150" }, { "id": "rs368482150", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368482150#frequency_tab" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747654", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L75", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.76.76", "start_pos": 76, "end_pos": 76, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775896875", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775896875", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775896875", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775896875#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "LVFCLGSLLYQLSGGPPRFL", "down_seq": "DLRQYLGNSTYLDDHGPPPS", "snv": [ { "evidence": [ { "id": "rs1775896875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775896875" }, { "id": "rs1775896875", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775896875#frequency_tab" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747656", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L76", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.56.56", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.96.96", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.77.77", "start_pos": 77, "end_pos": 77, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs779558967", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779558967", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs779558967", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779558967", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs779558967", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779558967", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs752103505", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752103505", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs752103505", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752103505", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs752103505", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752103505#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs752103505", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752103505", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VFCLGSLLYQLSGGPPRFLL", "down_seq": "LRQYLGNSTYLDDHGPPPSK", "snv": [ { "evidence": [ { "id": "rs779558967", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779558967" }, { "id": "rs779558967", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779558967" }, { "id": "rs779558967", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779558967" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747661", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D77", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752103505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752103505" }, { "id": "rs752103505", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752103505" }, { "id": "rs752103505", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752103505#frequency_tab" }, { "id": "rs752103505", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752103505" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747659", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D77", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752103505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752103505" }, { "id": "rs752103505", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752103505" }, { "id": "rs752103505", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752103505#frequency_tab" }, { "id": "rs752103505", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752103505" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747659", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D77", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752103505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752103505" }, { "id": "rs752103505", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752103505" }, { "id": "rs752103505", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752103505#frequency_tab" }, { "id": "rs752103505", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752103505" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747659", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D77", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.96.96", "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": 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": "Q9Y2C2-1.78.78", "start_pos": 78, "end_pos": 78, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775897379", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775897379", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775897379", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775897379#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1775897379", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1775897379", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "FCLGSLLYQLSGGPPRFLLD", "down_seq": "RQYLGNSTYLDDHGPPPSKV", "snv": [ { "evidence": [ { "id": "rs1775897379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775897379" }, { "id": "rs1775897379", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1775897379#frequency_tab" }, { "id": "rs1775897379", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1775897379" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747663", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L78", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.98.98", "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": "Q9Y2C2-1.79.79", "start_pos": 79, "end_pos": 79, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs754583097", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754583097", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754583097", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754583097", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs754583097", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754583097#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs754583097", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754583097", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs200783884", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200783884", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200783884", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200783884", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs200783884", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200783884", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200783884", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200783884#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs200783884", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200783884", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CLGSLLYQLSGGPPRFLLDL", "down_seq": "QYLGNSTYLDDHGPPPSKVL", "snv": [ { "evidence": [ { "id": "rs754583097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754583097" }, { "id": "rs754583097", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754583097" }, { "id": "rs754583097", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754583097#frequency_tab" }, { "id": "rs754583097", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754583097" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747666", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R79", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754583097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754583097" }, { "id": "rs754583097", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754583097" }, { "id": "rs754583097", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754583097#frequency_tab" }, { "id": "rs754583097", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754583097" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747666", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R79", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200783884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200783884" }, { "id": "rs200783884", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200783884" }, { "id": "rs200783884", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200783884" }, { "id": "rs200783884", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200783884#frequency_tab" }, { "id": "rs200783884", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200783884" } ], "glycoeffect": [], "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747665", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000392465", "site_lbl": "R79", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.59.59", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.80.80", "start_pos": 80, "end_pos": 80, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1408769597", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408769597", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1408769597", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1408769597#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1408769597", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408769597", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "LGSLLYQLSGGPPRFLLDLR", "down_seq": "YLGNSTYLDDHGPPPSKVLP", "snv": [ { "evidence": [ { "id": "rs1408769597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408769597" }, { "id": "rs1408769597", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1408769597#frequency_tab" }, { "id": "rs1408769597", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408769597" } ], "glycoeffect": [], "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747669", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q80", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.100.100", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.81.81", "start_pos": 81, "end_pos": 81, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs747844853", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747844853", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs747844853", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747844853", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs747844853", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747844853", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "GSLLYQLSGGPPRFLLDLRQ", "down_seq": "LGNSTYLDDHGPPPSKVLPF", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs747844853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747844853" }, { "id": "rs747844853", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747844853" }, { "id": "rs747844853", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747844853" } ], "glycoeffect": [ "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: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747672", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y81", "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": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148747672", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y81", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.61.61", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.100.100", "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": 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": "Q9Y2C2-1.82.82", "start_pos": 82, "end_pos": 82, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs921586876", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs921586876", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs921586876", "url": "https://www.ensembl.org/id/rs921586876", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1179220273", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1179220273", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1179220273", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1179220273#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1179220273", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1179220273", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "SLLYQLSGGPPRFLLDLRQY", "down_seq": "GNSTYLDDHGPPPSKVLPFP", "snv": [ { "evidence": [ { "id": "rs921586876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs921586876" }, { "id": "rs921586876", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs921586876" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747676", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L82", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1179220273", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1179220273" }, { "id": "rs1179220273", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1179220273#frequency_tab" }, { "id": "rs1179220273", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1179220273" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747675", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L82", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.100.100", "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": 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": "Q9Y2C2-1.83.83", "start_pos": 83, "end_pos": 83, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LLYQLSGGPPRFLLDLRQYL", "down_seq": "NSTYLDDHGPPPSKVLPFPS", "snv": [ { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148886986", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G83", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.63.63", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.103.103", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.85.85", "start_pos": 85, "end_pos": 85, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1778923597", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778923597", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1778923597", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778923597#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YQLSGGPPRFLLDLRQYLGN", "down_seq": "TYLDDHGPPPSKVLPFPSQV", "snv": [ { "evidence": [ { "id": "rs1778923597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778923597" }, { "id": "rs1778923597", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778923597#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148886992", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S85", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.65.65", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.105.105", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.87.87", "start_pos": 87, "end_pos": 87, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1379663687", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1379663687", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1379663687", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1379663687", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LSGGPPRFLLDLRQYLGNST", "down_seq": "LDDHGPPPSKVLPFPSQVVY", "snv": [ { "evidence": [ { "id": "rs1379663687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1379663687" }, { "id": "rs1379663687", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1379663687" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148886998", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y87", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.67.67", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.106.106", "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": "Q9Y2C2-1.88.88", "start_pos": 88, "end_pos": 88, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1778923798", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778923798", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1778923798", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778923798#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "SGGPPRFLLDLRQYLGNSTY", "down_seq": "DDHGPPPSKVLPFPSQVVYN", "snv": [ { "evidence": [ { "id": "rs1778923798", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778923798" }, { "id": "rs1778923798", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778923798#frequency_tab" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148887002", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L88", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.68.68", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.106.106", "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": "Q9Y2C2-1.89.89", "start_pos": 89, "end_pos": 89, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1778923849", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778923849", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1778923849", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778923849#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GGPPRFLLDLRQYLGNSTYL", "down_seq": "DHGPPPSKVLPFPSQVVYNR", "snv": [ { "evidence": [ { "id": "rs1778923849", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778923849" }, { "id": "rs1778923849", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778923849#frequency_tab" } ], "glycoeffect": [], "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148887003", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D89", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.69.69", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.109.109", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.8.8", "start_pos": 8, "end_pos": 8, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1775887402", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775887402", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775887402", "url": "https://www.ensembl.org/id/rs1775887402", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "MKKKQQH", "down_seq": "GGGADPWPHGAPMGGAPPGL", "snv": [ { "evidence": [ { "id": "rs1775887402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775887402" }, { "id": "rs1775887402", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775887402" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747452", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P8", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.9.9", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "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": "Q9Y2C2-1.91.91", "start_pos": 91, "end_pos": 91, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1172450505", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1172450505", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1172450505", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1172450505", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs143622120", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143622120", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs143622120", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143622120", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs143622120", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143622120", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs143622120", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143622120#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs143622120", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143622120", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "PPRFLLDLRQYLGNSTYLDD", "down_seq": "GPPPSKVLPFPSQVVYNRVG", "snv": [ { "evidence": [ { "id": "rs1172450505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1172450505" }, { "id": "rs1172450505", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1172450505" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148887010", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H91", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs143622120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143622120" }, { "id": "rs143622120", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143622120" }, { "id": "rs143622120", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143622120" }, { "id": "rs143622120", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143622120#frequency_tab" }, { "id": "rs143622120", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143622120" } ], "glycoeffect": [], "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148887009", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000981162", "site_lbl": "H91", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.71.71", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.111.111", "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": 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": "Q9Y2C2-1.92.92", "start_pos": 92, "end_pos": 92, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs773693678", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773693678", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773693678", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773693678", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773693678", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773693678#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs773693678", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773693678", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1778924146", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778924146", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1778924146", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778924146#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "PRFLLDLRQYLGNSTYLDDH", "down_seq": "PPPSKVLPFPSQVVYNRVGK", "snv": [ { "evidence": [ { "id": "rs773693678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773693678" }, { "id": "rs773693678", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773693678" }, { "id": "rs773693678", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773693678#frequency_tab" }, { "id": "rs773693678", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773693678" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148887012", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G92", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1778924146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778924146" }, { "id": "rs1778924146", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778924146#frequency_tab" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148887013", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G92", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773693678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773693678" }, { "id": "rs773693678", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773693678" }, { "id": "rs773693678", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773693678#frequency_tab" }, { "id": "rs773693678", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773693678" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148887012", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G92", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.72.72", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.73.73", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_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": "Q9Y2C2-1.94.94", "start_pos": 94, "end_pos": 94, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs200067873", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200067873", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200067873", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200067873", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs200067873", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200067873", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200067873", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200067873#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs200067873", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200067873", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1399817255", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1399817255", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1399817255", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1399817255", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "FLLDLRQYLGNSTYLDDHGP", "down_seq": "PSKVLPFPSQVVYNRVGKCG", "snv": [ { "evidence": [ { "id": "rs200067873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200067873" }, { "id": "rs200067873", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200067873" }, { "id": "rs200067873", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200067873" }, { "id": "rs200067873", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200067873#frequency_tab" }, { "id": "rs200067873", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200067873" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148887019", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "P94", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1399817255", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1399817255" }, { "id": "rs1399817255", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1399817255" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148887018", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P94", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_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" ] }, { "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": "Q9Y2C2-1.95.95", "start_pos": 95, "end_pos": 95, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs143984063", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143984063", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs143984063", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143984063", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs143984063", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143984063", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs143984063", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143984063#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs143984063", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143984063", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9Y2C2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LLDLRQYLGNSTYLDDHGPP", "down_seq": "SKVLPFPSQVVYNRVGKCGS", "snv": [ { "evidence": [ { "id": "rs143984063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143984063" }, { "id": "rs143984063", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143984063" }, { "id": "rs143984063", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143984063" }, { "id": "rs143984063", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143984063#frequency_tab" }, { "id": "rs143984063", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143984063" } ], "glycoeffect": [], "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148887021", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P95", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9Y2C2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2C2" }, { "id": "rs143984063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143984063" }, { "id": "rs143984063", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143984063" }, { "id": "rs143984063", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143984063" }, { "id": "rs143984063", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143984063#frequency_tab" }, { "id": "rs143984063", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143984063" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfotransferase).", "chr_id": "6", "chr_pos": "148887021", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P95", "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": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.75.75", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_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": "Q9Y2C2-1.96.96", "start_pos": 96, "end_pos": 96, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1355528806", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355528806", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1355528806", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1355528806", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1778924534", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778924534", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1778924534", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778924534#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LDLRQYLGNSTYLDDHGPPP", "down_seq": "KVLPFPSQVVYNRVGKCGSR", "snv": [ { "evidence": [ { "id": "rs1355528806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355528806" }, { "id": "rs1355528806", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1355528806" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148887024", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S96", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1355528806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1355528806" }, { "id": "rs1355528806", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1355528806" }, { "id": "rs1778924534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1778924534" }, { "id": "rs1778924534", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1778924534#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148887024", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S96", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_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" ] }, { "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": "Q9Y2C2-1.98.98", "start_pos": 98, "end_pos": 98, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1245102005", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1245102005", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1245102005", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1245102005#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1245102005", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1245102005", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs771461582", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771461582", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771461582", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771461582", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771461582", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771461582#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs771461582", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771461582", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "LRQYLGNSTYLDDHGPPPSK", "down_seq": "LPFPSQVVYNRVGKCGSRTV", "snv": [ { "evidence": [ { "id": "rs1245102005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1245102005" }, { "id": "rs1245102005", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1245102005#frequency_tab" }, { "id": "rs1245102005", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1245102005" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941280", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V98", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771461582", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771461582" }, { "id": "rs771461582", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771461582" }, { "id": "rs771461582", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771461582#frequency_tab" }, { "id": "rs771461582", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771461582" } ], "glycoeffect": [], "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941279", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V98", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.78.78", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.99.99", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9Y2C2-1.99.99", "start_pos": 99, "end_pos": 99, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1780120578", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780120578", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1780120578", "url": "https://www.ensembl.org/id/rs1780120578", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "RQYLGNSTYLDDHGPPPSKV", "down_seq": "PFPSQVVYNRVGKCGSRTVV", "snv": [ { "evidence": [ { "id": "rs1780120578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1780120578" }, { "id": "rs1780120578", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1780120578" } ], "glycoeffect": [], "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148941283", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L99", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9Y2C2-1.79.79", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9Y2C2-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9Y2C2-1.81.81", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9Y2C2-1.82.82", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9Y2C2-1.83.83", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9Y2C2-1.84.84", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9Y2C2-1.85.85", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9Y2C2-1.86.86", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9Y2C2-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9Y2C2-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9Y2C2-1.89.89", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9Y2C2-1.91.91", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.92.92", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.94.94", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.95.95", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.98.98", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.100.100", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.103.103", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9Y2C2-1.105.105", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9Y2C2-1.106.106", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.109.109", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.111.111", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.112.112", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.113.113", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.115.115", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.116.116", "categories": [ "mutagenesis_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.117.117", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2C2-1.9.9", "start_pos": 9, "end_pos": 9, "uniprot_canonical_ac": "Q9Y2C2-1", "length": 406, "uniprot_id": "UST_HUMAN", "protein_name": "Uronyl 2-sulfotransferase", "refseq_ac": "NP_005706", "refseq_name": "uronyl 2-sulfotransferase", "gene_name": "UST", "gene_names_uniprotkb": "UST; DS2ST", "gene_names_refseq": "2OST; CS-2OST; UST", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2C2", "url": "https://www.uniprot.org/uniprotkb/Q9Y2C2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs774259630", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774259630", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774259630", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774259630", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774259630", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774259630#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs774259630", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774259630", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1775887694", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775887694", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1775887694", "url": "https://www.ensembl.org/id/rs1775887694", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "MKKKQQHP", "down_seq": "GGADPWPHGAPMGGAPPGLG", "snv": [ { "evidence": [ { "id": "rs774259630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774259630" }, { "id": "rs774259630", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774259630" }, { "id": "rs774259630", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774259630#frequency_tab" }, { "id": "rs774259630", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774259630" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747455", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G9", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774259630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774259630" }, { "id": "rs774259630", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774259630" }, { "id": "rs774259630", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774259630#frequency_tab" }, { "id": "rs774259630", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774259630" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747455", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G9", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1775887694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1775887694" }, { "id": "rs1775887694", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1775887694" } ], "glycoeffect": [], "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfotransferase.", "chr_id": "6", "chr_pos": "148747456", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G9", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "84", "end_pos": "84" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "166", "end_pos": "166" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "321", "end_pos": "321" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "126", "end_pos": "126" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "140", "end_pos": "140" }, { "start_pos": "142", "end_pos": "142" }, { "start_pos": "167", "end_pos": "167" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "175", "end_pos": "175" }, { "start_pos": "192", "end_pos": "192" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "84", "end_pos": "84" }, { "start_pos": "86", "end_pos": "86" }, { "start_pos": "100", "end_pos": "100" }, { "start_pos": "103", "end_pos": "103" }, { "start_pos": "105", "end_pos": "105" }, { "start_pos": "106", "end_pos": "106" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "112", "end_pos": "112" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "117", "end_pos": "117" }, { "start_pos": "11", "end_pos": "11" }, { "start_pos": "120", "end_pos": "120" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "129", "end_pos": "129" }, { "start_pos": "12", "end_pos": "12" }, { "start_pos": "131", "end_pos": "131" }, { "start_pos": "132", "end_pos": "132" }, { "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": "139", "end_pos": "139" }, { "start_pos": "13", "end_pos": "13" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "145", "end_pos": "145" }, { "start_pos": "146", "end_pos": "146" }, { "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": "154", "end_pos": "154" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "160", "end_pos": "160" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "162", "end_pos": "162" }, { "start_pos": "163", "end_pos": "163" }, { "start_pos": "164", "end_pos": "164" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "172", "end_pos": "172" }, { "start_pos": "176", "end_pos": "176" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "179", "end_pos": "179" }, { "start_pos": "17", "end_pos": "17" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "184", "end_pos": "184" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "186", "end_pos": "186" }, { "start_pos": "187", "end_pos": "187" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "193", "end_pos": "193" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "196", "end_pos": "196" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "199", "end_pos": "199" }, { "start_pos": "19", "end_pos": "19" }, { "start_pos": "202", "end_pos": "202" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "204", "end_pos": "204" }, { "start_pos": "206", "end_pos": "206" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "209", "end_pos": "209" }, { "start_pos": "20", "end_pos": "20" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "214", "end_pos": "214" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "218", "end_pos": "218" }, { "start_pos": "219", "end_pos": "219" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "221", "end_pos": "221" }, { "start_pos": "223", "end_pos": "223" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "231", "end_pos": "231" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "233", "end_pos": "233" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "239", "end_pos": "239" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "242", "end_pos": "242" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "249", "end_pos": "249" }, { "start_pos": "24", "end_pos": "24" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "251", "end_pos": "251" }, { "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": "25", "end_pos": "25" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "262", "end_pos": "262" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "268", "end_pos": "268" }, { "start_pos": "269", "end_pos": "269" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "270", "end_pos": "270" }, { "start_pos": "272", "end_pos": "272" }, { "start_pos": "274", "end_pos": "274" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "277", "end_pos": "277" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "280", "end_pos": "280" }, { "start_pos": "281", "end_pos": "281" }, { "start_pos": "282", "end_pos": "282" }, { "start_pos": "284", "end_pos": "284" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "288", "end_pos": "288" }, { "start_pos": "289", "end_pos": "289" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "292", "end_pos": "292" }, { "start_pos": "295", "end_pos": "295" }, { "start_pos": "296", "end_pos": "296" }, { "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": "301", "end_pos": "301" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "304", "end_pos": "304" }, { "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": "313", "end_pos": "313" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "320", "end_pos": "320" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "324", "end_pos": "324" }, { "start_pos": "326", "end_pos": "326" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "328", "end_pos": "328" }, { "start_pos": "329", "end_pos": "329" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "331", "end_pos": "331" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "334", "end_pos": "334" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "336", "end_pos": "336" }, { "start_pos": "338", "end_pos": "338" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "359", "end_pos": "359" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "364", "end_pos": "364" }, { "start_pos": "366", "end_pos": "366" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "368", "end_pos": "368" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "371", "end_pos": "371" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "37", "end_pos": "37" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "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": "389", "end_pos": "389" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "391", "end_pos": "391" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "396", "end_pos": "396" }, { "start_pos": "397", "end_pos": "397" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "39", "end_pos": "39" }, { "start_pos": "401", "end_pos": "401" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "45", "end_pos": "45" }, { "start_pos": "46", "end_pos": "46" }, { "start_pos": "47", "end_pos": "47" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "49", "end_pos": "49" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "51", "end_pos": "51" }, { "start_pos": "52", "end_pos": "52" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "58", "end_pos": "58" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "61", "end_pos": "61" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "67", "end_pos": "67" }, { "start_pos": "68", "end_pos": "68" }, { "start_pos": "69", "end_pos": "69" }, { "start_pos": "6", "end_pos": "6" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "71", "end_pos": "71" }, { "start_pos": "72", "end_pos": "72" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "78", "end_pos": "78" }, { "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": "85", "end_pos": "85" }, { "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": "91", "end_pos": "91" }, { "start_pos": "92", "end_pos": "92" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "98", "end_pos": "98" }, { "start_pos": "99", "end_pos": "99" }, { "start_pos": "9", "end_pos": "9" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9Y2C2-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y2C2-1.4.4", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9Y2C2-1.5.5", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9Y2C2-1.6.6", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9Y2C2-1.8.8", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9Y2C2-1.10.10", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9Y2C2-1.11.11", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9Y2C2-1.12.12", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9Y2C2-1.13.13", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y2C2-1.14.14", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2C2-1.17.17", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9Y2C2-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9Y2C2-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9Y2C2-1.20.20", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9Y2C2-1.21.21", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9Y2C2-1.22.22", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9Y2C2-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9Y2C2-1.24.24", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9Y2C2-1.25.25", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2C2-1.26.26", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9Y2C2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2C2-1.28.28", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9Y2C2-1.29.29", "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": 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": "A1L4Q6-1.107.107", "start_pos": 107, "end_pos": 107, "uniprot_canonical_ac": "A1L4Q6-1", "length": 167, "uniprot_id": "YK033_HUMAN", "protein_name": "Putative uncharacterized protein FLJ41423", "refseq_ac": "", "refseq_name": "", "gene_name": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A1L4Q6", "url": "https://www.uniprot.org/uniprotkb/A1L4Q6" } ], "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": "PSVWSCGEPVPRRIWVTASV", "down_seq": "PSPRQALHPCSDSLDILKAL", "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": "Thr107", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "107", "end_pos": "107" } ] } ], "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": 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": "Q3ZCU0-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q3ZCU0-1", "length": 254, "uniprot_id": "GVQW3_HUMAN", "protein_name": "Protein GVQW3", "refseq_ac": "NP_001269385", "refseq_name": "protein GVQW3 isoform a", "gene_name": "GVQW3", "gene_names_uniprotkb": "GVQW3", "gene_names_refseq": "GVQW3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q3ZCU0", "url": "https://www.uniprot.org/uniprotkb/Q3ZCU0" } ], "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": "Q3ZCU0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3ZCU0" } ], "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": "Q3ZCU0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3ZCU0", "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": "Q3ZCU0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q3ZCU0" } ] } ], "all_sites": [], "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": "Q9Y5V0-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9Y5V0-1", "length": 76, "uniprot_id": "ZN706_HUMAN", "protein_name": "Transcriptional regulator ZNF706", "refseq_ac": "NP_001035975", "refseq_name": "zinc finger protein 706", "gene_name": "ZNF706", "gene_names_uniprotkb": "ZNF706; HSPC038; PNAS-113", "gene_names_refseq": "HSPC038; PNAS-106; PNAS-113; ZNF706", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5V0", "url": "https://www.uniprot.org/uniprotkb/Q9Y5V0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q9Y5V0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5V0" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "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": "Q9Y5V0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5V0" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "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": "Q9Y5V0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5V0" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "crossref": [ { "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y5V0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5V0", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "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": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "Q9Y5V0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y5V0" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9Y5V0-1.3.3", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y5V0-1.8.8", "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": "Q9Y5V0-1.3.3", "start_pos": 3, "end_pos": 3, "uniprot_canonical_ac": "Q9Y5V0-1", "length": 76, "uniprot_id": "ZN706_HUMAN", "protein_name": "Transcriptional regulator ZNF706", "refseq_ac": "NP_001035975", "refseq_name": "zinc finger protein 706", "gene_name": "ZNF706", "gene_names_uniprotkb": "ZNF706; HSPC038; PNAS-113", "gene_names_refseq": "HSPC038; PNAS-106; PNAS-113; ZNF706", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5V0", "url": "https://www.uniprot.org/uniprotkb/Q9Y5V0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5V0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5V0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MA", "down_seq": "GQQKIQSQQKNAKKQAGQKK", "snv": [ { "evidence": [ { "id": "Q9Y5V0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5V0" } ], "glycoeffect": [], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "8", "chr_pos": "101201734", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R3", "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: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: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: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": "3", "end_pos": "3" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9Y5V0-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9Y5V0-1.8.8", "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": "Q9Y5V0-1.8.8", "start_pos": 8, "end_pos": 8, "uniprot_canonical_ac": "Q9Y5V0-1", "length": 76, "uniprot_id": "ZN706_HUMAN", "protein_name": "Transcriptional regulator ZNF706", "refseq_ac": "NP_001035975", "refseq_name": "zinc finger protein 706", "gene_name": "ZNF706", "gene_names_uniprotkb": "ZNF706; HSPC038; PNAS-113", "gene_names_refseq": "HSPC038; PNAS-106; PNAS-113; ZNF706", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y5V0", "url": "https://www.uniprot.org/uniprotkb/Q9Y5V0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y5V0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5V0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "MARGQQK", "down_seq": "QSQQKNAKKQAGQKKKQGHD", "snv": [ { "evidence": [ { "id": "Q9Y5V0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y5V0" } ], "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: num. of cancers (3).", "chr_id": "8", "chr_pos": "101201719", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "I8", "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: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": "snv", "site_list": [ { "start_pos": "3", "end_pos": "3" }, { "start_pos": "8", "end_pos": "8" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9Y5V0-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9Y5V0-1.3.3", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6AW86-1.516.516", "start_pos": 516, "end_pos": 516, "uniprot_canonical_ac": "Q6AW86-1", "length": 544, "uniprot_id": "Z324B_HUMAN", "protein_name": "Zinc finger protein 324B", "refseq_ac": "NP_997278", "refseq_name": "zinc finger protein 324B", "gene_name": "ZNF324B", "gene_names_uniprotkb": "ZNF324B", "gene_names_refseq": "ZNF324B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6AW86", "url": "https://www.uniprot.org/uniprotkb/Q6AW86" } ], "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": "Q6AW86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6AW86", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs151040335", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151040335", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs151040335", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs151040335", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs151040335", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151040335", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs151040335", "url": "https://www.ncbi.nlm.nih.gov/snp/rs151040335#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs151040335", "url": "http://gnomad.broadinstitute.org/awesome?query=rs151040335", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LLHHQRIHTTEKTNAAAPDC", "down_seq": "PGPGFLQGHHRKVRRGGKPS", "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": "Thr516", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "Q6AW86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6AW86" }, { "id": "rs151040335", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151040335" }, { "id": "rs151040335", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs151040335" }, { "id": "rs151040335", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs151040335" }, { "id": "rs151040335", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs151040335#frequency_tab" }, { "id": "rs151040335", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs151040335" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4177", "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": "19", "chr_pos": "58456491", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T516", "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": "516", "end_pos": "516" } ] }, { "type": "snv", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q6AW86-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q6AW86-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q6AW86-1.530.530", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6AW86-1.114.114", "start_pos": 114, "end_pos": 114, "uniprot_canonical_ac": "Q6AW86-1", "length": 544, "uniprot_id": "Z324B_HUMAN", "protein_name": "Zinc finger protein 324B", "refseq_ac": "NP_997278", "refseq_name": "zinc finger protein 324B", "gene_name": "ZNF324B", "gene_names_uniprotkb": "ZNF324B", "gene_names_refseq": "ZNF324B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6AW86", "url": "https://www.uniprot.org/uniprotkb/Q6AW86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1599983310", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599983310", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1599983310", "url": "https://www.ensembl.org/id/rs1599983310", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "WPRAFPDTPPGMTTSVFPVA", "down_seq": "ACHSVKSLQRQPGASPSQER", "snv": [ { "evidence": [ { "id": "rs1599983310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599983310" }, { "id": "rs1599983310", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1599983310" } ], "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": "19", "chr_pos": "58455284", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D114", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "516", "end_pos": "516" } ] }, { "type": "snv", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" } ] } ], "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": "Q6AW86-1.177.177", "start_pos": 177, "end_pos": 177, "uniprot_canonical_ac": "Q6AW86-1", "length": 544, "uniprot_id": "Z324B_HUMAN", "protein_name": "Zinc finger protein 324B", "refseq_ac": "NP_997278", "refseq_name": "zinc finger protein 324B", "gene_name": "ZNF324B", "gene_names_uniprotkb": "ZNF324B", "gene_names_refseq": "ZNF324B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6AW86", "url": "https://www.uniprot.org/uniprotkb/Q6AW86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6AW86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6AW86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SISLRLTSPLRPPKSSRPRE", "down_seq": "TFTEYRVPGRQPRTPERQKP", "snv": [ { "evidence": [ { "id": "Q6AW86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6AW86" } ], "glycoeffect": [], "subjects_tested": "1557", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "58455475", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K177", "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: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": "516", "end_pos": "516" } ] }, { "type": "snv", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" } ] } ], "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": "Q6AW86-1.21.21", "start_pos": 21, "end_pos": 21, "uniprot_canonical_ac": "Q6AW86-1", "length": 544, "uniprot_id": "Z324B_HUMAN", "protein_name": "Zinc finger protein 324B", "refseq_ac": "NP_997278", "refseq_name": "zinc finger protein 324B", "gene_name": "ZNF324B", "gene_names_uniprotkb": "ZNF324B", "gene_names_refseq": "ZNF324B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6AW86", "url": "https://www.uniprot.org/uniprotkb/Q6AW86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6AW86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6AW86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MTFEDVAVYFSQEEWGLLDT", "down_seq": "QRALYRHVMLENFTLVTSLG", "snv": [ { "evidence": [ { "id": "Q6AW86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6AW86" } ], "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": "19", "chr_pos": "58453763", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A21", "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": "516", "end_pos": "516" } ] }, { "type": "snv", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" } ] } ], "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": "Q6AW86-1.306.306", "start_pos": 306, "end_pos": 306, "uniprot_canonical_ac": "Q6AW86-1", "length": 544, "uniprot_id": "Z324B_HUMAN", "protein_name": "Zinc finger protein 324B", "refseq_ac": "NP_997278", "refseq_name": "zinc finger protein 324B", "gene_name": "ZNF324B", "gene_names_uniprotkb": "ZNF324B", "gene_names_refseq": "ZNF324B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6AW86", "url": "https://www.uniprot.org/uniprotkb/Q6AW86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1406147061", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406147061", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1406147061", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1406147061#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1406147061", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1406147061", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "ECTQCGKAFSQTSHLTQHQR", "down_seq": "HSGETPYACPVCGKAFRHSS", "snv": [ { "evidence": [ { "id": "rs1406147061", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1406147061" }, { "id": "rs1406147061", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1406147061#frequency_tab" }, { "id": "rs1406147061", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1406147061" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IHS->NHS).", "chr_id": "19", "chr_pos": "58455861", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I306", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "516", "end_pos": "516" } ] }, { "type": "snv", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q6AW86-1.325.325", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6AW86-1.325.325", "start_pos": 325, "end_pos": 325, "uniprot_canonical_ac": "Q6AW86-1", "length": 544, "uniprot_id": "Z324B_HUMAN", "protein_name": "Zinc finger protein 324B", "refseq_ac": "NP_997278", "refseq_name": "zinc finger protein 324B", "gene_name": "ZNF324B", "gene_names_uniprotkb": "ZNF324B", "gene_names_refseq": "ZNF324B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6AW86", "url": "https://www.uniprot.org/uniprotkb/Q6AW86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775880720", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775880720", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775880720", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775880720", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775880720", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775880720", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs775880720", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775880720", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RIHSGETPYACPVCGKAFRH", "down_seq": "SSLVRHQRIHTAEKSFRCSE", "snv": [ { "evidence": [ { "id": "rs775880720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775880720" }, { "id": "rs775880720", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775880720" }, { "id": "rs775880720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775880720" }, { "id": "rs775880720", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775880720" } ], "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 (SSS->NSS).", "chr_id": "19", "chr_pos": "58455918", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S325", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "516", "end_pos": "516" } ] }, { "type": "snv", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q6AW86-1.306.306", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6AW86-1.372.372", "start_pos": 372, "end_pos": 372, "uniprot_canonical_ac": "Q6AW86-1", "length": 544, "uniprot_id": "Z324B_HUMAN", "protein_name": "Zinc finger protein 324B", "refseq_ac": "NP_997278", "refseq_name": "zinc finger protein 324B", "gene_name": "ZNF324B", "gene_names_uniprotkb": "ZNF324B", "gene_names_refseq": "ZNF324B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6AW86", "url": "https://www.uniprot.org/uniprotkb/Q6AW86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6AW86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6AW86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "HGSNLSQHRKIHAGGRPYAC", "down_seq": "QCGRRFCRNSHLIQHERTHT", "snv": [ { "evidence": [ { "id": "Q6AW86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6AW86" } ], "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 (3).", "chr_id": "19", "chr_pos": "58456058", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A372", "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: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": "516", "end_pos": "516" } ] }, { "type": "snv", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" } ] } ], "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": "Q6AW86-1.473.473", "start_pos": 473, "end_pos": 473, "uniprot_canonical_ac": "Q6AW86-1", "length": 544, "uniprot_id": "Z324B_HUMAN", "protein_name": "Zinc finger protein 324B", "refseq_ac": "NP_997278", "refseq_name": "zinc finger protein 324B", "gene_name": "ZNF324B", "gene_names_uniprotkb": "ZNF324B", "gene_names_refseq": "ZNF324B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6AW86", "url": "https://www.uniprot.org/uniprotkb/Q6AW86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6AW86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6AW86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FRCVDCGKGFAKGAVLLSHR", "down_seq": "IHTGEKPFVCTQCGRAFRER", "snv": [ { "evidence": [ { "id": "Q6AW86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6AW86" } ], "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": "19", "chr_pos": "58456362", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R473", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "516", "end_pos": "516" } ] }, { "type": "snv", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q6AW86-1.474.474", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q6AW86-1.484.484", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "Q6AW86-1.474.474", "start_pos": 474, "end_pos": 474, "uniprot_canonical_ac": "Q6AW86-1", "length": 544, "uniprot_id": "Z324B_HUMAN", "protein_name": "Zinc finger protein 324B", "refseq_ac": "NP_997278", "refseq_name": "zinc finger protein 324B", "gene_name": "ZNF324B", "gene_names_uniprotkb": "ZNF324B", "gene_names_refseq": "ZNF324B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6AW86", "url": "https://www.uniprot.org/uniprotkb/Q6AW86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs938334154", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs938334154", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs938334154", "url": "https://www.ncbi.nlm.nih.gov/snp/rs938334154#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs938334154", "url": "http://gnomad.broadinstitute.org/awesome?query=rs938334154", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "RCVDCGKGFAKGAVLLSHRR", "down_seq": "HTGEKPFVCTQCGRAFRERP", "snv": [ { "evidence": [ { "id": "rs938334154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs938334154" }, { "id": "rs938334154", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs938334154#frequency_tab" }, { "id": "rs938334154", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs938334154" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IHT->NHT).", "chr_id": "19", "chr_pos": "58456365", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I474", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "516", "end_pos": "516" } ] }, { "type": "snv", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q6AW86-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q6AW86-1.484.484", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6AW86-1.484.484", "start_pos": 484, "end_pos": 484, "uniprot_canonical_ac": "Q6AW86-1", "length": 544, "uniprot_id": "Z324B_HUMAN", "protein_name": "Zinc finger protein 324B", "refseq_ac": "NP_997278", "refseq_name": "zinc finger protein 324B", "gene_name": "ZNF324B", "gene_names_uniprotkb": "ZNF324B", "gene_names_refseq": "ZNF324B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6AW86", "url": "https://www.uniprot.org/uniprotkb/Q6AW86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6AW86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6AW86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KGAVLLSHRRIHTGEKPFVC", "down_seq": "QCGRAFRERPALLHHQRIHT", "snv": [ { "evidence": [ { "id": "Q6AW86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6AW86" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "58456395", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T484", "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: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": "516", "end_pos": "516" } ] }, { "type": "snv", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q6AW86-1.473.473", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q6AW86-1.474.474", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6AW86-1.511.511", "start_pos": 511, "end_pos": 511, "uniprot_canonical_ac": "Q6AW86-1", "length": 544, "uniprot_id": "Z324B_HUMAN", "protein_name": "Zinc finger protein 324B", "refseq_ac": "NP_997278", "refseq_name": "zinc finger protein 324B", "gene_name": "ZNF324B", "gene_names_uniprotkb": "ZNF324B", "gene_names_refseq": "ZNF324B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6AW86", "url": "https://www.uniprot.org/uniprotkb/Q6AW86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs557596056", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557596056", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs557596056", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs557596056", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs557596056", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557596056", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs557596056", "url": "http://gnomad.broadinstitute.org/awesome?query=rs557596056", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs557596056", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs557596056", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RERPALLHHQRIHTTEKTNA", "down_seq": "APDCTPGPGFLQGHHRKVRR", "snv": [ { "evidence": [ { "id": "rs557596056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557596056" }, { "id": "rs557596056", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs557596056" }, { "id": "rs557596056", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557596056" }, { "id": "rs557596056", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs557596056" }, { "id": "rs557596056", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs557596056" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NAA->NAT).", "chr_id": "19", "chr_pos": "58456475", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A511", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "516", "end_pos": "516" } ] }, { "type": "snv", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q6AW86-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q6AW86-1.516.516", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q6AW86-1.530.530", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6AW86-1.514.514", "start_pos": 514, "end_pos": 514, "uniprot_canonical_ac": "Q6AW86-1", "length": 544, "uniprot_id": "Z324B_HUMAN", "protein_name": "Zinc finger protein 324B", "refseq_ac": "NP_997278", "refseq_name": "zinc finger protein 324B", "gene_name": "ZNF324B", "gene_names_uniprotkb": "ZNF324B", "gene_names_refseq": "ZNF324B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6AW86", "url": "https://www.uniprot.org/uniprotkb/Q6AW86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs565844600", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565844600", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs565844600", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565844600", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs565844600", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565844600", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs565844600", "url": "https://www.ncbi.nlm.nih.gov/snp/rs565844600#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs565844600", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565844600", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PALLHHQRIHTTEKTNAAAP", "down_seq": "CTPGPGFLQGHHRKVRRGGK", "snv": [ { "evidence": [ { "id": "rs565844600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565844600" }, { "id": "rs565844600", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs565844600" }, { "id": "rs565844600", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs565844600" }, { "id": "rs565844600", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs565844600#frequency_tab" }, { "id": "rs565844600", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs565844600" } ], "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": "19", "chr_pos": "58456484", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "D514", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "516", "end_pos": "516" } ] }, { "type": "snv", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q6AW86-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6AW86-1.516.516", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q6AW86-1.530.530", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6AW86-1.530.530", "start_pos": 530, "end_pos": 530, "uniprot_canonical_ac": "Q6AW86-1", "length": 544, "uniprot_id": "Z324B_HUMAN", "protein_name": "Zinc finger protein 324B", "refseq_ac": "NP_997278", "refseq_name": "zinc finger protein 324B", "gene_name": "ZNF324B", "gene_names_uniprotkb": "ZNF324B", "gene_names_refseq": "ZNF324B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6AW86", "url": "https://www.uniprot.org/uniprotkb/Q6AW86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6AW86", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6AW86", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AAAPDCTPGPGFLQGHHRKV", "down_seq": "RGGKPSPVLKPAKV", "snv": [ { "evidence": [ { "id": "Q6AW86", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6AW86" } ], "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": "19", "chr_pos": "58456532", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R530", "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": "glycosylation", "site_list": [ { "start_pos": "516", "end_pos": "516" } ] }, { "type": "snv", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q6AW86-1.511.511", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q6AW86-1.514.514", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q6AW86-1.516.516", "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": "Q6AW86-1.74.74", "start_pos": 74, "end_pos": 74, "uniprot_canonical_ac": "Q6AW86-1", "length": 544, "uniprot_id": "Z324B_HUMAN", "protein_name": "Zinc finger protein 324B", "refseq_ac": "NP_997278", "refseq_name": "zinc finger protein 324B", "gene_name": "ZNF324B", "gene_names_uniprotkb": "ZNF324B", "gene_names_refseq": "ZNF324B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6AW86", "url": "https://www.uniprot.org/uniprotkb/Q6AW86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2052891613", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2052891613", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2052891613", "url": "https://www.ensembl.org/id/rs2052891613", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "ERGEEPWVPSGKDMTLARNT", "down_seq": "GRLNSGSWSLTEDRDVSGEW", "snv": [ { "evidence": [ { "id": "rs2052891613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2052891613" }, { "id": "rs2052891613", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2052891613" } ], "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 (NTY->NTC).", "chr_id": "19", "chr_pos": "58454327", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y74", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "516", "end_pos": "516" } ] }, { "type": "snv", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q6AW86-1.80.80", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q6AW86-1.83.83", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6AW86-1.80.80", "start_pos": 80, "end_pos": 80, "uniprot_canonical_ac": "Q6AW86-1", "length": 544, "uniprot_id": "Z324B_HUMAN", "protein_name": "Zinc finger protein 324B", "refseq_ac": "NP_997278", "refseq_name": "zinc finger protein 324B", "gene_name": "ZNF324B", "gene_names_uniprotkb": "ZNF324B", "gene_names_refseq": "ZNF324B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6AW86", "url": "https://www.uniprot.org/uniprotkb/Q6AW86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs772080850", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772080850", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs772080850", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772080850", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs772080850", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772080850#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs772080850", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772080850", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "WVPSGKDMTLARNTYGRLNS", "down_seq": "SWSLTEDRDVSGEWPRAFPD", "snv": [ { "evidence": [ { "id": "rs772080850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772080850" }, { "id": "rs772080850", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772080850" }, { "id": "rs772080850", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772080850#frequency_tab" }, { "id": "rs772080850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772080850" } ], "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": "19", "chr_pos": "58454344", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G80", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "516", "end_pos": "516" } ] }, { "type": "snv", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q6AW86-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q6AW86-1.83.83", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6AW86-1.83.83", "start_pos": 83, "end_pos": 83, "uniprot_canonical_ac": "Q6AW86-1", "length": 544, "uniprot_id": "Z324B_HUMAN", "protein_name": "Zinc finger protein 324B", "refseq_ac": "NP_997278", "refseq_name": "zinc finger protein 324B", "gene_name": "ZNF324B", "gene_names_uniprotkb": "ZNF324B", "gene_names_refseq": "ZNF324B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6AW86", "url": "https://www.uniprot.org/uniprotkb/Q6AW86" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1339782507", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339782507", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1339782507", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1339782507#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SGKDMTLARNTYGRLNSGSW", "down_seq": "LTEDRDVSGEWPRAFPDTPP", "snv": [ { "evidence": [ { "id": "rs1339782507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339782507" }, { "id": "rs1339782507", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1339782507#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 (SLT->NLT).", "chr_id": "19", "chr_pos": "58455192", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S83", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "516", "end_pos": "516" } ] }, { "type": "snv", "site_list": [ { "start_pos": "114", "end_pos": "114" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "473", "end_pos": "473" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "511", "end_pos": "511" }, { "start_pos": "514", "end_pos": "514" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "74", "end_pos": "74" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q6AW86-1.74.74", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q6AW86-1.80.80", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.1880.1880", "start_pos": 1880, "end_pos": 1880, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "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" } ] } ], "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" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "CGGAMERGTCPDCKEVIGGT", "down_seq": "HTLERSNQLASEMDGAQHAA", "glycosylation": [ { "glytoucan_ac": "G63041LO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EVIGGTnHTLER", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1880", "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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9P2E3-1.1860.1860", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9P2E3-1.1881.1881", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9P2E3-1.1882.1882", "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": "Q9P2E3-1.1007.1007", "start_pos": 1007, "end_pos": 1007, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The human disease-associated gene ZNFX1 controls inflammation through inhibition of the NLRP3 inflammasome.", "journal": "The EMBO journal", "date": "2024-11", "authors": "Huang Jing, Wang Yao, Jia Xin, Zhao Changfeng, Zhang Meiqi, Bao Mi, Fu Pan, Cheng Cuiqin, Shi Ruona, Zhang Xiaofei, Cui Jun, Wan Gang, Xu Anlong", "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "reference": [ { "type": "PubMed", "id": "39333773", "url": "https://glygen.org/publication/PubMed/39333773" } ] } ], "crossref": [ { "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "39333773", "url": "https://glygen.org/publication/PubMed/39333773", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "GAAKYRQILQKVEPRIVIVE", "down_seq": "AAEVLEAHTIATLSKACQHL", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Loss of interaction with NLRP3 and inhibition of NLRP3 inflammasome.", "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" }, { "database": "PubMed", "id": "39333773", "url": "https://glygen.org/publication/PubMed/39333773" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.1574.1575", "start_pos": 1574, "end_pos": 1575, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A split-site E3 ligase mechanism enables ZNFX1 to ubiquitinate and cluster single-stranded RNA into ubiquitin-coated nucleoprotein particles.", "journal": "Cell", "date": "2025-10-16", "authors": "Grabarczyk Daniel B, Aird Eric J, Reznikow Vanessa, Kirchgatterer Paul C, Ehrmann Julian F, Kurzbauer Robert, Bell Lillie E, Kellner Max J, Aggarwal Ritika, Schleiffer Alexander, Faas Victoria, Deszcz Luiza, Meinhart Anton, Versteeg Gijs A, Penninger Josef M, Stelzl Lukas S, Gaidt Moritz M, Tessmer Ingrid, Corn Jacob E, Clausen Tim", "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "reference": [ { "type": "PubMed", "id": "40876457", "url": "https://glygen.org/publication/PubMed/40876457" } ] } ], "crossref": [ { "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "40876457", "url": "https://glygen.org/publication/PubMed/40876457", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "FF", "start_aa": "F", "up_seq": "CGEPCPKKCRICHMDEVTQI", "down_seq": "GFEDEPDARFVQLEDCSHIF", "mutagenesis": [ { "sequence_org": "FF", "sequence_mut": "AA", "comment": "Loss of autoubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" }, { "database": "PubMed", "id": "40876457", "url": "https://glygen.org/publication/PubMed/40876457" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9P2E3-1.1560.1560", "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": "Q9P2E3-1.1623.1623", "start_pos": 1623, "end_pos": 1623, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A split-site E3 ligase mechanism enables ZNFX1 to ubiquitinate and cluster single-stranded RNA into ubiquitin-coated nucleoprotein particles.", "journal": "Cell", "date": "2025-10-16", "authors": "Grabarczyk Daniel B, Aird Eric J, Reznikow Vanessa, Kirchgatterer Paul C, Ehrmann Julian F, Kurzbauer Robert, Bell Lillie E, Kellner Max J, Aggarwal Ritika, Schleiffer Alexander, Faas Victoria, Deszcz Luiza, Meinhart Anton, Versteeg Gijs A, Penninger Josef M, Stelzl Lukas S, Gaidt Moritz M, Tessmer Ingrid, Corn Jacob E, Clausen Tim", "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "reference": [ { "type": "PubMed", "id": "40876457", "url": "https://glygen.org/publication/PubMed/40876457" } ] } ], "crossref": [ { "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "40876457", "url": "https://glygen.org/publication/PubMed/40876457", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "YMNEQKDDEVAIRLKVCPIC", "down_seq": "VPIRKNLRYGTSIKQRLEEI", "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Loss of autoubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" }, { "database": "PubMed", "id": "40876457", "url": "https://glygen.org/publication/PubMed/40876457" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.1835.1835", "start_pos": 1835, "end_pos": 1835, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A split-site E3 ligase mechanism enables ZNFX1 to ubiquitinate and cluster single-stranded RNA into ubiquitin-coated nucleoprotein particles.", "journal": "Cell", "date": "2025-10-16", "authors": "Grabarczyk Daniel B, Aird Eric J, Reznikow Vanessa, Kirchgatterer Paul C, Ehrmann Julian F, Kurzbauer Robert, Bell Lillie E, Kellner Max J, Aggarwal Ritika, Schleiffer Alexander, Faas Victoria, Deszcz Luiza, Meinhart Anton, Versteeg Gijs A, Penninger Josef M, Stelzl Lukas S, Gaidt Moritz M, Tessmer Ingrid, Corn Jacob E, Clausen Tim", "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "reference": [ { "type": "PubMed", "id": "40876457", "url": "https://glygen.org/publication/PubMed/40876457" } ] } ], "crossref": [ { "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "40876457", "url": "https://glygen.org/publication/PubMed/40876457", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "ALKATLPCSGLGISEEERVQ", "down_seq": "VSAIGYPRGHWFKCRNGHIY", "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Decreased autobiquitination. Loss of ssRNA ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" }, { "database": "PubMed", "id": "40876457", "url": "https://glygen.org/publication/PubMed/40876457" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.1860.1860", "start_pos": 1860, "end_pos": 1860, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A split-site E3 ligase mechanism enables ZNFX1 to ubiquitinate and cluster single-stranded RNA into ubiquitin-coated nucleoprotein particles.", "journal": "Cell", "date": "2025-10-16", "authors": "Grabarczyk Daniel B, Aird Eric J, Reznikow Vanessa, Kirchgatterer Paul C, Ehrmann Julian F, Kurzbauer Robert, Bell Lillie E, Kellner Max J, Aggarwal Ritika, Schleiffer Alexander, Faas Victoria, Deszcz Luiza, Meinhart Anton, Versteeg Gijs A, Penninger Josef M, Stelzl Lukas S, Gaidt Moritz M, Tessmer Ingrid, Corn Jacob E, Clausen Tim", "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "reference": [ { "type": "PubMed", "id": "40876457", "url": "https://glygen.org/publication/PubMed/40876457" } ] } ], "crossref": [ { "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "40876457", "url": "https://glygen.org/publication/PubMed/40876457", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "GYPRGHWFKCRNGHIYVIGD", "down_seq": "GGAMERGTCPDCKEVIGGTN", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of autoubiquitination and ssRNA ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" }, { "database": "PubMed", "id": "40876457", "url": "https://glygen.org/publication/PubMed/40876457" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q9P2E3-1.1880.1880", "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": "Q9P2E3-1.1881.1881", "start_pos": 1881, "end_pos": 1881, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A split-site E3 ligase mechanism enables ZNFX1 to ubiquitinate and cluster single-stranded RNA into ubiquitin-coated nucleoprotein particles.", "journal": "Cell", "date": "2025-10-16", "authors": "Grabarczyk Daniel B, Aird Eric J, Reznikow Vanessa, Kirchgatterer Paul C, Ehrmann Julian F, Kurzbauer Robert, Bell Lillie E, Kellner Max J, Aggarwal Ritika, Schleiffer Alexander, Faas Victoria, Deszcz Luiza, Meinhart Anton, Versteeg Gijs A, Penninger Josef M, Stelzl Lukas S, Gaidt Moritz M, Tessmer Ingrid, Corn Jacob E, Clausen Tim", "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "reference": [ { "type": "PubMed", "id": "40876457", "url": "https://glygen.org/publication/PubMed/40876457" } ] } ], "crossref": [ { "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "40876457", "url": "https://glygen.org/publication/PubMed/40876457", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "GGAMERGTCPDCKEVIGGTN", "down_seq": "TLERSNQLASEMDGAQHAAW", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Decreased autobiquitination. Loss of ssRNA ubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" }, { "database": "PubMed", "id": "40876457", "url": "https://glygen.org/publication/PubMed/40876457" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9P2E3-1.1880.1880", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9P2E3-1.1882.1882", "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": "Q9P2E3-1.625.625", "start_pos": 625, "end_pos": 625, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The human disease-associated gene ZNFX1 controls inflammation through inhibition of the NLRP3 inflammasome.", "journal": "The EMBO journal", "date": "2024-11", "authors": "Huang Jing, Wang Yao, Jia Xin, Zhao Changfeng, Zhang Meiqi, Bao Mi, Fu Pan, Cheng Cuiqin, Shi Ruona, Zhang Xiaofei, Cui Jun, Wan Gang, Xu Anlong", "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "reference": [ { "type": "PubMed", "id": "39333773", "url": "https://glygen.org/publication/PubMed/39333773" } ] } ], "crossref": [ { "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "39333773", "url": "https://glygen.org/publication/PubMed/39333773", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ALQFALTRELAIIQGPPGTG", "down_seq": "TYVGLKIVQALLTNESVWQI", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of interaction with NLRP3 and inhibition of NLRP3 inflammasome.", "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" }, { "database": "PubMed", "id": "39333773", "url": "https://glygen.org/publication/PubMed/39333773" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.1043.1043", "start_pos": 1043, "end_pos": 1043, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1317555809", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317555809", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1317555809", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317555809", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "ACQHLILIGDHQQLRPSANV", "down_seq": "DLAKNFNLEVSLFERLVKVN", "snv": [ { "evidence": [ { "id": "rs1317555809", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1317555809" }, { "id": "rs1317555809", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1317555809" } ], "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": "20", "chr_pos": "49252808", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y1043", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9P2E3-1.1050.1050", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.1050.1050", "start_pos": 1050, "end_pos": 1050, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs892512962", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs892512962", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs892512962", "url": "https://www.ncbi.nlm.nih.gov/snp/rs892512962#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs892512962", "url": "http://gnomad.broadinstitute.org/awesome?query=rs892512962", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "IGDHQQLRPSANVYDLAKNF", "down_seq": "LEVSLFERLVKVNIPFVRLN", "snv": [ { "evidence": [ { "id": "rs892512962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs892512962" }, { "id": "rs892512962", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs892512962#frequency_tab" }, { "id": "rs892512962", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs892512962" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFN->NFS).", "chr_id": "20", "chr_pos": "49252787", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1050", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9P2E3-1.1043.1043", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9P2E3-1.1065.1065", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.1065.1065", "start_pos": 1065, "end_pos": 1065, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LAKNFNLEVSLFERLVKVNI", "down_seq": "FVRLNYQHRMCPEIARLLTP", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "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": "20", "chr_pos": "49252743", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1065", "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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9P2E3-1.1050.1050", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.109.109", "start_pos": 109, "end_pos": 109, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs778250143", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778250143", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778250143", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778250143", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778250143", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778250143#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs778250143", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778250143", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SDEARDQRHDQENDTRWRNG", "down_seq": "QDCRNRRPPWSNDNFQQWRT", "snv": [ { "evidence": [ { "id": "rs778250143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778250143" }, { "id": "rs778250143", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778250143" }, { "id": "rs778250143", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778250143#frequency_tab" }, { "id": "rs778250143", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778250143" } ], "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": "20", "chr_pos": "49271486", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N109", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9P2E3-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9P2E3-1.123.123", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.1118.1118", "start_pos": 1118, "end_pos": 1118, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1015807530", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1015807530", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1015807530", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1015807530#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LKYEKIKGVSSNLFFVEHNF", "down_seq": "EQEIQEGKSHQNQHEAHFVV", "snv": [ { "evidence": [ { "id": "rs1015807530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1015807530" }, { "id": "rs1015807530", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1015807530#frequency_tab" } ], "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": "20", "chr_pos": "49249672", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1118", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.1159.1159", "start_pos": 1159, "end_pos": 1159, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ELCKYFLCQEYLPSQITILT", "down_seq": "YTGQLFCLRKLMPAKTFAGV", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TYT->NYT).", "chr_id": "20", "chr_pos": "49249548", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1159", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.116.116", "start_pos": 116, "end_pos": 116, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs751233949", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751233949", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751233949", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751233949", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751233949", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751233949#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs751233949", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751233949", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs751233949", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs751233949", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RHDQENDTRWRNGNQDCRNR", "down_seq": "PPWSNDNFQQWRTPHQKPTE", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" }, { "id": "rs751233949", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751233949" }, { "id": "rs751233949", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751233949" }, { "id": "rs751233949", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751233949#frequency_tab" }, { "id": "rs751233949", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751233949" }, { "id": "rs751233949", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs751233949" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NRR->NRT).", "chr_id": "20", "chr_pos": "49271465", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R116", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9P2E3-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9P2E3-1.123.123", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.1194.1194", "start_pos": 1194, "end_pos": 1194, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1980781126", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1980781126", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1980781126", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1980781126#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "KTFAGVRVHVVDKYQGEEND", "down_seq": "ILLSLVRSNQEGKVGFLQIS", "snv": [ { "evidence": [ { "id": "rs1980781126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1980781126" }, { "id": "rs1980781126", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1980781126#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": "20", "chr_pos": "49249443", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1194", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.1217.1217", "start_pos": 1217, "end_pos": 1217, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs766944793", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766944793", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs766944793", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766944793", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs766944793", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766944793#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs766944793", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766944793", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "LSLVRSNQEGKVGFLQISNR", "down_seq": "CVALSRAKKGMYCIGNMQML", "snv": [ { "evidence": [ { "id": "rs766944793", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766944793" }, { "id": "rs766944793", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766944793" }, { "id": "rs766944793", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766944793#frequency_tab" }, { "id": "rs766944793", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766944793" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRI->NRS).", "chr_id": "20", "chr_pos": "49249374", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1217", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.123.123", "start_pos": 123, "end_pos": 123, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs765210892", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765210892", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765210892", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765210892", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765210892", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765210892#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs765210892", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765210892", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs765210892", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765210892", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "TRWRNGNQDCRNRRPPWSND", "down_seq": "FQQWRTPHQKPTEQPQQAKK", "snv": [ { "evidence": [ { "id": "rs765210892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765210892" }, { "id": "rs765210892", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765210892" }, { "id": "rs765210892", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765210892#frequency_tab" }, { "id": "rs765210892", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765210892" }, { "id": "rs765210892", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs765210892" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NDN->NDS).", "chr_id": "20", "chr_pos": "49271444", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N123", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9P2E3-1.109.109", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9P2E3-1.116.116", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.1259.1259", "start_pos": 1259, "end_pos": 1259, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "KVPLWSKIIHTLRENNQIGP", "down_seq": "LRLCCQNHPETHTLVSKASD", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "49249247", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "M1259", "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: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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.1456.1456", "start_pos": 1456, "end_pos": 1456, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GTILDCGHPCPGSCHSCFEG", "down_seq": "FHERCQQPCKRLLICSHKCQ", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "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": "20", "chr_pos": "49248658", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1456", "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: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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q9P2E3-1.1472.1472", "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": "Q9P2E3-1.1501.1501", "start_pos": 1501, "end_pos": 1501, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GECPPCQRTCQNRCVHSQCK", "down_seq": "KCGELCSPCVEPCVWRCQHY", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "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 (KKC->NKC).", "chr_id": "20", "chr_pos": "49248521", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K1501", "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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.1525.1525", "start_pos": 1525, "end_pos": 1525, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ELCSPCVEPCVWRCQHYQCT", "down_seq": "LCSEPCNRPPCYVPCTKLLV", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "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 (KLC->NLC).", "chr_id": "20", "chr_pos": "49248449", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K1525", "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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q9P2E3-1.1534.1534", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.1534.1534", "start_pos": 1534, "end_pos": 1534, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1980736176", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1980736176", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1980736176", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1980736176#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1980736176", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1980736176", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "CVWRCQHYQCTKLCSEPCNR", "down_seq": "PCYVPCTKLLVCGHPCIGLC", "snv": [ { "evidence": [ { "id": "rs1980736176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1980736176" }, { "id": "rs1980736176", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1980736176#frequency_tab" }, { "id": "rs1980736176", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1980736176" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRP->NRS).", "chr_id": "20", "chr_pos": "49248424", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1534", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9P2E3-1.1525.1525", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.1560.1560", "start_pos": 1560, "end_pos": 1560, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs763590925", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763590925", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs763590925", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763590925", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs763590925", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763590925#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs763590925", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763590925", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "CTKLLVCGHPCIGLCGEPCP", "down_seq": "KCRICHMDEVTQIFFGFEDE", "snv": [ { "evidence": [ { "id": "rs763590925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763590925" }, { "id": "rs763590925", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763590925" }, { "id": "rs763590925", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs763590925#frequency_tab" }, { "id": "rs763590925", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763590925" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KKC->NKC).", "chr_id": "20", "chr_pos": "49248344", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1560", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q9P2E3-1.1574.1575", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.1706.1706", "start_pos": 1706, "end_pos": 1706, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1402760151", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402760151", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1402760151", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402760151", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "KEKLAQKNLSVKDLGLVENY", "down_seq": "SFYDHLASLWDSLKKMHVLE", "snv": [ { "evidence": [ { "id": "rs1402760151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402760151" }, { "id": "rs1402760151", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402760151" } ], "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": "20", "chr_pos": "49247907", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1706", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.1747.1747", "start_pos": 1747, "end_pos": 1747, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1415956972", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415956972", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1415956972", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415956972", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EKRVRTRLEQVHEWLAKKRL", "down_seq": "FTSQELSDLRSEIQRLTYLV", "snv": [ { "evidence": [ { "id": "rs1415956972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415956972" }, { "id": "rs1415956972", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415956972" } ], "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 (SFT->NFT).", "chr_id": "20", "chr_pos": "49247784", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1747", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.1882.1882", "start_pos": 1882, "end_pos": 1882, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1193301189", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1193301189", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1193301189", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1193301189", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GAMERGTCPDCKEVIGGTNH", "down_seq": "LERSNQLASEMDGAQHAAWS", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" }, { "id": "rs1193301189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1193301189" }, { "id": "rs1193301189", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1193301189" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NHT->NHI).", "chr_id": "20", "chr_pos": "49247379", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1882", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9P2E3-1.1880.1880", "categories": [ "glycosylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9P2E3-1.1881.1881", "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": "Q9P2E3-1.1904.1904", "start_pos": 1904, "end_pos": 1904, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ERSNQLASEMDGAQHAAWSD", "down_seq": "ANNLMNFEEIQGMM", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "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": "20", "chr_pos": "49247313", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1904", "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": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.215.215", "start_pos": 215, "end_pos": 215, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs778783729", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778783729", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778783729", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778783729", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "CSSKMDRQSVLHVLGILKNS", "down_seq": "FLKVCLPAYVVGMITEPIPD", "snv": [ { "evidence": [ { "id": "rs778783729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778783729" }, { "id": "rs778783729", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778783729" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSK->NST).", "chr_id": "20", "chr_pos": "49271168", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K215", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.237.237", "start_pos": 237, "end_pos": 237, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LKVCLPAYVVGMITEPIPDI", "down_seq": "NQYPEHISNIISLLQDLVSV", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "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": "20", "chr_pos": "49271103", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R237", "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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9P2E3-1.240.240", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9P2E3-1.248.248", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.240.240", "start_pos": 240, "end_pos": 240, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1488672015", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1488672015", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1488672015", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1488672015#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1488672015", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1488672015", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "CLPAYVVGMITEPIPDIRNQ", "down_seq": "PEHISNIISLLQDLVSVFPA", "snv": [ { "evidence": [ { "id": "rs1488672015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1488672015" }, { "id": "rs1488672015", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1488672015#frequency_tab" }, { "id": "rs1488672015", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1488672015" } ], "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 (NQY->NQC).", "chr_id": "20", "chr_pos": "49271093", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y240", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9P2E3-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9P2E3-1.248.248", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.248.248", "start_pos": 248, "end_pos": 248, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs770622327", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770622327", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs770622327", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770622327", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs770622327", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770622327#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs770622327", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770622327", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "MITEPIPDIRNQYPEHISNI", "down_seq": "SLLQDLVSVFPASSVQETSM", "snv": [ { "evidence": [ { "id": "rs770622327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770622327" }, { "id": "rs770622327", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770622327" }, { "id": "rs770622327", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770622327#frequency_tab" }, { "id": "rs770622327", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770622327" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NII->NIT).", "chr_id": "20", "chr_pos": "49271069", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I248", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9P2E3-1.237.237", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9P2E3-1.240.240", "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": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.318.318", "start_pos": 318, "end_pos": 318, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs746729848", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746729848", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746729848", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746729848", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746729848", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746729848", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VQTIIEHLQEKRREGTLRVD", "down_seq": "YTLVQPEAEDHVESYRTMPI", "snv": [ { "evidence": [ { "id": "rs746729848", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746729848" }, { "id": "rs746729848", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746729848" }, { "id": "rs746729848", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746729848" } ], "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 (TYT->NYT).", "chr_id": "20", "chr_pos": "49270859", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T318", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.354.354", "start_pos": 354, "end_pos": 354, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RTMPIYPTYNEVHLDERPFL", "down_seq": "PNIISGKYDSTAIYLDTHFR", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "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": "20", "chr_pos": "49270752", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R354", "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: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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q9P2E3-1.363.363", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.35.35", "start_pos": 35, "end_pos": 35, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SHTNHRGPVDGELPPRARNQ", "down_seq": "NNPPANALRGGASHPGRHPR", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "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 (NQA->NQT).", "chr_id": "20", "chr_pos": "49271709", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A35", "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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9P2E3-1.38.38", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.363.363", "start_pos": 363, "end_pos": 363, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs775339970", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775339970", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775339970", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775339970", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775339970", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775339970#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs775339970", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775339970", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs775339970", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775339970", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "NEVHLDERPFLRPNIISGKY", "down_seq": "STAIYLDTHFRLLREDFVRP", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" }, { "id": "rs775339970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775339970" }, { "id": "rs775339970", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775339970" }, { "id": "rs775339970", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775339970#frequency_tab" }, { "id": "rs775339970", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775339970" }, { "id": "rs775339970", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775339970" } ], "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 (DST->NST).", "chr_id": "20", "chr_pos": "49270725", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D363", "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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9P2E3-1.354.354", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9P2E3-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9P2E3-1.381.381", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.377.377", "start_pos": 377, "end_pos": 377, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IISGKYDSTAIYLDTHFRLL", "down_seq": "EDFVRPLREGILELLQSFED", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "49270683", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R377", "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: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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9P2E3-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9P2E3-1.381.381", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.381.381", "start_pos": 381, "end_pos": 381, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "KYDSTAIYLDTHFRLLREDF", "down_seq": "RPLREGILELLQSFEDQGLR", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "49270671", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V381", "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: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: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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9P2E3-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9P2E3-1.377.377", "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": "Q9P2E3-1.38.38", "start_pos": 38, "end_pos": 38, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1981407830", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1981407830", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1981407830", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1981407830#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1981407830", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1981407830", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "NHRGPVDGELPPRARNQANN", "down_seq": "PANALRGGASHPGRHPRANN", "snv": [ { "evidence": [ { "id": "rs1981407830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1981407830" }, { "id": "rs1981407830", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1981407830#frequency_tab" }, { "id": "rs1981407830", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1981407830" } ], "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": "20", "chr_pos": "49271700", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P38", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9P2E3-1.35.35", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.441.441", "start_pos": 441, "end_pos": 441, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CSSSGIVYKVQFDTKPLKFV", "down_seq": "WQNSKRLLYGSLVCMSKDNF", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "49270491", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R441", "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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.465.465", "start_pos": 465, "end_pos": 465, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "SKRLLYGSLVCMSKDNFETF", "down_seq": "FATVSNREQEDLCRGIVQLC", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "49270419", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L465", "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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q9P2E3-1.476.476", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.476.476", "start_pos": 476, "end_pos": 476, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "MSKDNFETFLFATVSNREQE", "down_seq": "LCRGIVQLCFNEQSQQLLAE", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "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 (DLC->NLC).", "chr_id": "20", "chr_pos": "49270386", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D476", "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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9P2E3-1.465.465", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.516.516", "start_pos": 516, "end_pos": 516, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EVQPSDSFLMVETTAYFEAY", "down_seq": "HVLEGLQEVQEEDVPFQRNI", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "20", "chr_pos": "49270265", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R516", "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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.556.556", "start_pos": 556, "end_pos": 556, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs557874234", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557874234", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs557874234", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs557874234", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs557874234", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557874234", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs557874234", "url": "http://gnomad.broadinstitute.org/awesome?query=rs557874234", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "IVECNSHVKEPRYLLMGGRY", "down_seq": "FTPLIENPSATGEFLRNVEG", "snv": [ { "evidence": [ { "id": "rs557874234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557874234" }, { "id": "rs557874234", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs557874234" }, { "id": "rs557874234", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs557874234" }, { "id": "rs557874234", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs557874234" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DFT->NFT).", "chr_id": "20", "chr_pos": "49270146", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D556", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q9P2E3-1.564.564", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.564.564", "start_pos": 564, "end_pos": 564, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "KEPRYLLMGGRYDFTPLIEN", "down_seq": "SATGEFLRNVEGLRHPRINV", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "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": "20", "chr_pos": "49270121", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P564", "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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9P2E3-1.556.556", "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": "Q9P2E3-1.60.60", "start_pos": 60, "end_pos": 60, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "ANALRGGASHPGRHPRANNH", "down_seq": "AAYWQREERFRAMGRNPHQG", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "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": "20", "chr_pos": "49271634", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P60", "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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.674.674", "start_pos": 674, "end_pos": 674, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs147430984", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147430984", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs147430984", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147430984", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs147430984", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147430984", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs147430984", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147430984#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs147430984", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147430984", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "VVCYTNHALDQFLEGIYNCQ", "down_seq": "TSIVRVGGRSNSEILKQFTL", "snv": [ { "evidence": [ { "id": "rs147430984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147430984" }, { "id": "rs147430984", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147430984" }, { "id": "rs147430984", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147430984" }, { "id": "rs147430984", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147430984#frequency_tab" }, { "id": "rs147430984", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147430984" } ], "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": "20", "chr_pos": "49264845", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.00529827", "site_lbl": "K674", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q9P2E3-1.679.679", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.679.679", "start_pos": 679, "end_pos": 679, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NHALDQFLEGIYNCQKTSIV", "down_seq": "VGGRSNSEILKQFTLRELRN", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "20", "chr_pos": "49264832", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R679", "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: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: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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9P2E3-1.674.674", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.704.704", "start_pos": 704, "end_pos": 704, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SNSEILKQFTLRELRNKREF", "down_seq": "RNLPMHLRRAYMSIMTQMKE", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "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": "20", "chr_pos": "49264757", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R704", "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: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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.870.870", "start_pos": 870, "end_pos": 870, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs751685080", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751685080", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751685080", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751685080", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751685080", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751685080#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs751685080", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751685080", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KKEESGADQELAKMLLAMRL", "down_seq": "HCGTGTAAGQEQATGEWQTQ", "snv": [ { "evidence": [ { "id": "rs751685080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751685080" }, { "id": "rs751685080", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751685080" }, { "id": "rs751685080", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751685080#frequency_tab" }, { "id": "rs751685080", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751685080" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DHC->NHC).", "chr_id": "20", "chr_pos": "49257473", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D870", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q9P2E3-1.874.874", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.874.874", "start_pos": 874, "end_pos": 874, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs200894514", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200894514", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs200894514", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200894514", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs200894514", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200894514", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs200894514", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200894514", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SGADQELAKMLLAMRLDHCG", "down_seq": "GTAAGQEQATGEWQTQRNQK", "snv": [ { "evidence": [ { "id": "rs200894514", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200894514" }, { "id": "rs200894514", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200894514" }, { "id": "rs200894514", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200894514" }, { "id": "rs200894514", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200894514" } ], "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 (TGT->NGT).", "chr_id": "20", "chr_pos": "49257460", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "T874", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9P2E3-1.870.870", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.910.910", "start_pos": 910, "end_pos": 910, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1173446094", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173446094", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1173446094", "url": "https://www.ensembl.org/id/rs1173446094", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QRNQKKKMKKRVKDELRKLN", "down_seq": "MTAAEANEIEDVWQLDLSSR", "snv": [ { "evidence": [ { "id": "rs1173446094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173446094" }, { "id": "rs1173446094", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1173446094" } ], "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 (TMT->NMT).", "chr_id": "20", "chr_pos": "49255883", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T910", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "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": "Q9P2E3-1.949.949", "start_pos": 949, "end_pos": 949, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1980923969", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1980923969", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1980923969", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1980923969#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "SRWQLYRLWLQLYQADTRRK", "down_seq": "LSYERQYRTSAERMAELRLQ", "snv": [ { "evidence": [ { "id": "rs1980923969", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1980923969" }, { "id": "rs1980923969", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1980923969#frequency_tab" } ], "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": "20", "chr_pos": "49254608", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I949", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "Q9P2E3-1.965.965", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.965.965", "start_pos": 965, "end_pos": 965, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9P2E3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "TRRKILSYERQYRTSAERMA", "down_seq": "LRLQEDLHILKDAQVVGMTT", "snv": [ { "evidence": [ { "id": "Q9P2E3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9P2E3" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "20", "chr_pos": "49254561", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E965", "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: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: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": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9P2E3-1.949.949", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9P2E3-1.1472.1472", "start_pos": 1472, "end_pos": 1472, "uniprot_canonical_ac": "Q9P2E3-1", "length": 1918, "uniprot_id": "ZNFX1_HUMAN", "protein_name": "NFX1-type zinc finger-containing protein 1", "refseq_ac": "NP_066363", "refseq_name": "NFX1-type zinc finger-containing protein 1", "gene_name": "ZNFX1", "gene_names_uniprotkb": "ZNFX1; KIAA1404", "gene_names_refseq": "IMD91; ZNFX1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9P2E3", "url": "https://www.uniprot.org/uniprotkb/Q9P2E3" } ], "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": "Q9P2E3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9P2E3-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q9P2E3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9P2E3", "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": "CFEGRFHERCQQPCKRLLIC", "down_seq": "HKCQEPCIGECPPCQRTCQN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9P2E3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9P2E3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1472" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1880", "end_pos": "1880" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1007", "end_pos": "1007" }, { "start_pos": "1574", "end_pos": "1575" }, { "start_pos": "1623", "end_pos": "1623" }, { "start_pos": "1835", "end_pos": "1835" }, { "start_pos": "1860", "end_pos": "1860" }, { "start_pos": "1881", "end_pos": "1881" }, { "start_pos": "625", "end_pos": "625" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1043", "end_pos": "1043" }, { "start_pos": "1050", "end_pos": "1050" }, { "start_pos": "1065", "end_pos": "1065" }, { "start_pos": "109", "end_pos": "109" }, { "start_pos": "1118", "end_pos": "1118" }, { "start_pos": "1159", "end_pos": "1159" }, { "start_pos": "116", "end_pos": "116" }, { "start_pos": "1194", "end_pos": "1194" }, { "start_pos": "1217", "end_pos": "1217" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "1259", "end_pos": "1259" }, { "start_pos": "1456", "end_pos": "1456" }, { "start_pos": "1501", "end_pos": "1501" }, { "start_pos": "1525", "end_pos": "1525" }, { "start_pos": "1534", "end_pos": "1534" }, { "start_pos": "1560", "end_pos": "1560" }, { "start_pos": "1706", "end_pos": "1706" }, { "start_pos": "1747", "end_pos": "1747" }, { "start_pos": "1882", "end_pos": "1882" }, { "start_pos": "1904", "end_pos": "1904" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "237", "end_pos": "237" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "354", "end_pos": "354" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "381", "end_pos": "381" }, { "start_pos": "38", "end_pos": "38" }, { "start_pos": "441", "end_pos": "441" }, { "start_pos": "465", "end_pos": "465" }, { "start_pos": "476", "end_pos": "476" }, { "start_pos": "516", "end_pos": "516" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "60", "end_pos": "60" }, { "start_pos": "674", "end_pos": "674" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "870", "end_pos": "870" }, { "start_pos": "874", "end_pos": "874" }, { "start_pos": "910", "end_pos": "910" }, { "start_pos": "949", "end_pos": "949" }, { "start_pos": "965", "end_pos": "965" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1472", "end_pos": "1472" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9P2E3-1.1456.1456", "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": "Q9HBT8-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9HBT8-1", "length": 521, "uniprot_id": "Z286A_HUMAN", "protein_name": "Zinc finger protein 286A", "refseq_ac": "NP_001124314", "refseq_name": "zinc finger protein 286A isoform 2", "gene_name": "ZNF286A", "gene_names_uniprotkb": "ZNF286A; KIAA1874; ZNF286", "gene_names_refseq": "ZNF286A; ZNF286", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBT8", "url": "https://www.uniprot.org/uniprotkb/Q9HBT8" } ], "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": "Q9HBT8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBT8" } ], "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": "Q9HBT8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBT8", "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": "Q9HBT8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9HBT8" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "222", "end_pos": "222" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q9HBT8-1.19.19", "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": "Q9HBT8-1.222.222", "start_pos": 222, "end_pos": 222, "uniprot_canonical_ac": "Q9HBT8-1", "length": 521, "uniprot_id": "Z286A_HUMAN", "protein_name": "Zinc finger protein 286A", "refseq_ac": "NP_001124314", "refseq_name": "zinc finger protein 286A isoform 2", "gene_name": "ZNF286A", "gene_names_uniprotkb": "ZNF286A; KIAA1874; ZNF286", "gene_names_refseq": "ZNF286A; ZNF286", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBT8", "url": "https://www.uniprot.org/uniprotkb/Q9HBT8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9HBT8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HBT8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SVLITEDRVPKGSYAFHTLE", "down_seq": "SLKQKSNLMKKQRTYKEKKP", "snv": [ { "evidence": [ { "id": "Q9HBT8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HBT8" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "15716390", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K222", "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": "snv", "site_list": [ { "start_pos": "222", "end_pos": "222" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] } ], "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": "Q9HBT8-1.36.36", "start_pos": 36, "end_pos": 36, "uniprot_canonical_ac": "Q9HBT8-1", "length": 521, "uniprot_id": "Z286A_HUMAN", "protein_name": "Zinc finger protein 286A", "refseq_ac": "NP_001124314", "refseq_name": "zinc finger protein 286A isoform 2", "gene_name": "ZNF286A", "gene_names_uniprotkb": "ZNF286A; KIAA1874; ZNF286", "gene_names_refseq": "ZNF286A; ZNF286", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBT8", "url": "https://www.uniprot.org/uniprotkb/Q9HBT8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9HBT8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HBT8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SQDSPHFQEKSTEEGEVAAL", "down_seq": "LTARSQETVTFKDVAMDFTP", "snv": [ { "evidence": [ { "id": "Q9HBT8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HBT8" } ], "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": "17", "chr_pos": "15701220", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R36", "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": "snv", "site_list": [ { "start_pos": "222", "end_pos": "222" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9HBT8-1.19.19", "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": "Q9HBT8-1.374.374", "start_pos": 374, "end_pos": 374, "uniprot_canonical_ac": "Q9HBT8-1", "length": 521, "uniprot_id": "Z286A_HUMAN", "protein_name": "Zinc finger protein 286A", "refseq_ac": "NP_001124314", "refseq_name": "zinc finger protein 286A isoform 2", "gene_name": "ZNF286A", "gene_names_uniprotkb": "ZNF286A; KIAA1874; ZNF286", "gene_names_refseq": "ZNF286A; ZNF286", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBT8", "url": "https://www.uniprot.org/uniprotkb/Q9HBT8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9HBT8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HBT8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YECNECDKAFIHSSALIKHQ", "down_seq": "THTGEKPYKCQECGKAFSHC", "snv": [ { "evidence": [ { "id": "Q9HBT8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HBT8" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "17", "chr_pos": "15716845", "ref_nt": "G", "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: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": "snv", "site_list": [ { "start_pos": "222", "end_pos": "222" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] } ], "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": "Q9HBT8-1.90.90", "start_pos": 90, "end_pos": 90, "uniprot_canonical_ac": "Q9HBT8-1", "length": 521, "uniprot_id": "Z286A_HUMAN", "protein_name": "Zinc finger protein 286A", "refseq_ac": "NP_001124314", "refseq_name": "zinc finger protein 286A isoform 2", "gene_name": "ZNF286A", "gene_names_uniprotkb": "ZNF286A; KIAA1874; ZNF286", "gene_names_refseq": "ZNF286A; ZNF286", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBT8", "url": "https://www.uniprot.org/uniprotkb/Q9HBT8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9HBT8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HBT8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "MLENYRNLVSLWLPVSKPES", "down_seq": "NLENGKEPLKLERKAPKSSY", "snv": [ { "evidence": [ { "id": "Q9HBT8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9HBT8" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "Y", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "17", "chr_pos": "15708181", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y90", "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: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: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": "222", "end_pos": "222" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] } ], "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": "Q9HBT8-1.19.19", "start_pos": 19, "end_pos": 19, "uniprot_canonical_ac": "Q9HBT8-1", "length": 521, "uniprot_id": "Z286A_HUMAN", "protein_name": "Zinc finger protein 286A", "refseq_ac": "NP_001124314", "refseq_name": "zinc finger protein 286A isoform 2", "gene_name": "ZNF286A", "gene_names_uniprotkb": "ZNF286A; KIAA1874; ZNF286", "gene_names_refseq": "ZNF286A; ZNF286", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9HBT8", "url": "https://www.uniprot.org/uniprotkb/Q9HBT8" } ], "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": "Q9HBT8", "url": "https://www.uniprot.org/uniprotkb/Q9HBT8" }, { "database": "iPTMnet", "id": "Q9HBT8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBT8" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9HBT8", "url": "https://www.uniprot.org/uniprotkb/Q9HBT8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9HBT8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBT8", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "METDLAEMPEKGALSSQD", "down_seq": "PHFQEKSTEEGEVAALRLTA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9HBT8", "url": "https://www.uniprot.org/uniprotkb/Q9HBT8" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9HBT8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9HBT8" } ], "site_lbl": "Ser19" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "222", "end_pos": "222" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "90", "end_pos": "90" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9HBT8-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9HBT8-1.36.36", "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": "Q8TBC5-1.22.22", "start_pos": 22, "end_pos": 22, "uniprot_canonical_ac": "Q8TBC5-1", "length": 510, "uniprot_id": "ZSC18_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 18", "refseq_ac": "NP_001139014", "refseq_name": "zinc finger and SCAN domain-containing protein 18 isoform 1", "gene_name": "ZSCAN18", "gene_names_uniprotkb": "ZSCAN18; ZNF447", "gene_names_refseq": "ZNF447; ZSCAN18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TBC5", "url": "https://www.uniprot.org/uniprotkb/Q8TBC5" } ], "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": "Q8TBC5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TBC5", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs149069414", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149069414", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs149069414", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149069414", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs149069414", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149069414", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs149069414", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149069414#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs149069414", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149069414", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LPLEKAFASPRSSPAPPDLP", "down_seq": "PGSAAGVQQEEPETIPERTP", "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": "Thr22", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "Q8TBC5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TBC5" }, { "id": "rs149069414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149069414" }, { "id": "rs149069414", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149069414" }, { "id": "rs149069414", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149069414" }, { "id": "rs149069414", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149069414#frequency_tab" }, { "id": "rs149069414", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149069414" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->M).", "chr_id": "19", "chr_pos": "58090203", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T22", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs149069414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149069414" }, { "id": "rs149069414", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149069414" }, { "id": "rs149069414", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149069414" }, { "id": "rs149069414", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149069414#frequency_tab" }, { "id": "rs149069414", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149069414" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->R).", "chr_id": "19", "chr_pos": "58090203", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.00196232", "site_lbl": "T22", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "22", "end_pos": "22" } ] }, { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "51", "end_pos": "51" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q8TBC5-1.23.23", "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": "Q8TBC5-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q8TBC5-1", "length": 510, "uniprot_id": "ZSC18_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 18", "refseq_ac": "NP_001139014", "refseq_name": "zinc finger and SCAN domain-containing protein 18 isoform 1", "gene_name": "ZSCAN18", "gene_names_uniprotkb": "ZSCAN18; ZNF447", "gene_names_refseq": "ZNF447; ZSCAN18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TBC5", "url": "https://www.uniprot.org/uniprotkb/Q8TBC5" } ], "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": "Q8TBC5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TBC5" } ], "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": "Q8TBC5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TBC5", "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": "Q8TBC5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TBC5" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "22", "end_pos": "22" } ] }, { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "51", "end_pos": "51" } ] } ], "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": "Q8TBC5-1.142.142", "start_pos": 142, "end_pos": 142, "uniprot_canonical_ac": "Q8TBC5-1", "length": 510, "uniprot_id": "ZSC18_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 18", "refseq_ac": "NP_001139014", "refseq_name": "zinc finger and SCAN domain-containing protein 18 isoform 1", "gene_name": "ZSCAN18", "gene_names_uniprotkb": "ZSCAN18; ZNF447", "gene_names_refseq": "ZNF447; ZSCAN18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TBC5", "url": "https://www.uniprot.org/uniprotkb/Q8TBC5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TBC5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TBC5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SLVEGLADVLEEPGMLLGSP", "down_seq": "GSSSILSDGVYERHMDPLLL", "snv": [ { "evidence": [ { "id": "Q8TBC5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TBC5" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "58088816", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A142", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "22", "end_pos": "22" } ] }, { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "51", "end_pos": "51" } ] } ], "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": "Q8TBC5-1.23.23", "start_pos": 23, "end_pos": 23, "uniprot_canonical_ac": "Q8TBC5-1", "length": 510, "uniprot_id": "ZSC18_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 18", "refseq_ac": "NP_001139014", "refseq_name": "zinc finger and SCAN domain-containing protein 18 isoform 1", "gene_name": "ZSCAN18", "gene_names_uniprotkb": "ZSCAN18; ZNF447", "gene_names_refseq": "ZNF447; ZSCAN18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TBC5", "url": "https://www.uniprot.org/uniprotkb/Q8TBC5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TBC5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TBC5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PLEKAFASPRSSPAPPDLPT", "down_seq": "GSAAGVQQEEPETIPERTPA", "snv": [ { "evidence": [ { "id": "Q8TBC5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TBC5" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "58090200", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P23", "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: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": "22", "end_pos": "22" } ] }, { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "51", "end_pos": "51" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q8TBC5-1.22.22", "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": "Q8TBC5-1.240.240", "start_pos": 240, "end_pos": 240, "uniprot_canonical_ac": "Q8TBC5-1", "length": 510, "uniprot_id": "ZSC18_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 18", "refseq_ac": "NP_001139014", "refseq_name": "zinc finger and SCAN domain-containing protein 18 isoform 1", "gene_name": "ZSCAN18", "gene_names_uniprotkb": "ZSCAN18; ZNF447", "gene_names_refseq": "ZNF447; ZSCAN18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TBC5", "url": "https://www.uniprot.org/uniprotkb/Q8TBC5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1260880039", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1260880039", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1260880039", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1260880039", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PEDPQHLGEWGHLDPAEENL", "down_seq": "SYRKLLLWGYQLSQPDAASR", "snv": [ { "evidence": [ { "id": "rs1260880039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1260880039" }, { "id": "rs1260880039", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1260880039" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLK->NLT).", "chr_id": "19", "chr_pos": "58086932", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K240", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "22", "end_pos": "22" } ] }, { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "51", "end_pos": "51" } ] } ], "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": "Q8TBC5-1.341.341", "start_pos": 341, "end_pos": 341, "uniprot_canonical_ac": "Q8TBC5-1", "length": 510, "uniprot_id": "ZSC18_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 18", "refseq_ac": "NP_001139014", "refseq_name": "zinc finger and SCAN domain-containing protein 18 isoform 1", "gene_name": "ZSCAN18", "gene_names_uniprotkb": "ZSCAN18; ZNF447", "gene_names_refseq": "ZNF447; ZSCAN18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TBC5", "url": "https://www.uniprot.org/uniprotkb/Q8TBC5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TBC5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TBC5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "TTEEEEEQPGKAPDPQDPQD", "down_seq": "ESDSATGSQRQSVIQQPAPD", "snv": [ { "evidence": [ { "id": "Q8TBC5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TBC5" } ], "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": "19", "chr_pos": "58085196", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A341", "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" } ] }, { "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": "22", "end_pos": "22" } ] }, { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "51", "end_pos": "51" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q8TBC5-1.349.349", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TBC5-1.349.349", "start_pos": 349, "end_pos": 349, "uniprot_canonical_ac": "Q8TBC5-1", "length": 510, "uniprot_id": "ZSC18_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 18", "refseq_ac": "NP_001139014", "refseq_name": "zinc finger and SCAN domain-containing protein 18 isoform 1", "gene_name": "ZSCAN18", "gene_names_uniprotkb": "ZSCAN18; ZNF447", "gene_names_refseq": "ZNF447; ZSCAN18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TBC5", "url": "https://www.uniprot.org/uniprotkb/Q8TBC5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TBC5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TBC5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PGKAPDPQDPQDAESDSATG", "down_seq": "QRQSVIQQPAPDRGTAKLGT", "snv": [ { "evidence": [ { "id": "Q8TBC5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TBC5" } ], "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": "19", "chr_pos": "58085172", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S349", "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: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": "22", "end_pos": "22" } ] }, { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "51", "end_pos": "51" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8TBC5-1.341.341", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TBC5-1.51.51", "start_pos": 51, "end_pos": 51, "uniprot_canonical_ac": "Q8TBC5-1", "length": 510, "uniprot_id": "ZSC18_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 18", "refseq_ac": "NP_001139014", "refseq_name": "zinc finger and SCAN domain-containing protein 18 isoform 1", "gene_name": "ZSCAN18", "gene_names_uniprotkb": "ZSCAN18; ZNF447", "gene_names_refseq": "ZNF447; ZSCAN18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TBC5", "url": "https://www.uniprot.org/uniprotkb/Q8TBC5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TBC5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TBC5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QEEPETIPERTPADLEFSRL", "down_seq": "FREFVYQEAAGPHQTLARLH", "snv": [ { "evidence": [ { "id": "Q8TBC5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TBC5" } ], "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 (4).", "chr_id": "19", "chr_pos": "58090116", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R51", "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: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: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": "22", "end_pos": "22" } ] }, { "type": "snv", "site_list": [ { "start_pos": "142", "end_pos": "142" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "240", "end_pos": "240" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "349", "end_pos": "349" }, { "start_pos": "51", "end_pos": "51" } ] } ], "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": "Q8IWR0-1.220.220", "start_pos": 220, "end_pos": 220, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWR0", "url": "https://oglcnac.org/atlas/detail/Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWR0", "url": "https://oglcnac.org/atlas/detail/Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWR0", "url": "https://oglcnac.org/atlas/detail/Q8IWR0" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0", "database": "O-GlcNAc Database", "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": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101", "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": "Q8IWR0", "url": "https://oglcnac.org/atlas/detail/Q8IWR0", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1257507573", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257507573", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1257507573", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1257507573", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs755598571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755598571", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755598571", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755598571", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755598571", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755598571#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs755598571", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755598571", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SVEDIEPDLLTPRQEAVPVV", "down_seq": "LPAPSFSHEVGSELASVPVM", "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": "Ser220", "evidence": [ { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "Q8IWR0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q8IWR0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWR0" } ] } ], "snv": [ { "evidence": [ { "id": "rs1257507573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257507573" }, { "id": "rs1257507573", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1257507573" } ], "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": "16", "chr_pos": "11774480", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S220", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1257507573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1257507573" }, { "id": "rs1257507573", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1257507573" } ], "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": "16", "chr_pos": "11774480", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S220", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755598571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755598571" }, { "id": "rs755598571", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755598571" }, { "id": "rs755598571", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755598571#frequency_tab" }, { "id": "rs755598571", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755598571" } ], "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": "16", "chr_pos": "11774481", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S220", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q8IWR0-1.210.210", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q8IWR0-1.225.225", "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": 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": 9 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWR0-1.2.2", "start_pos": 2, "end_pos": 2, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWR0", "url": "https://oglcnac.org/atlas/detail/Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWR0", "url": "https://oglcnac.org/atlas/detail/Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWR0", "url": "https://oglcnac.org/atlas/detail/Q8IWR0" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0", "database": "O-GlcNAc Database", "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": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101", "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": "Q8IWR0", "url": "https://oglcnac.org/atlas/detail/Q8IWR0", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1192312647", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1192312647", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1192312647", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1192312647#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1192312647", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1192312647", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "M", "down_seq": "NVSEERRKRQQNIKEGLQFI", "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": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "Q8IWR0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q8IWR0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWR0" } ] } ], "snv": [ { "evidence": [ { "id": "rs1192312647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1192312647" }, { "id": "rs1192312647", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1192312647#frequency_tab" }, { "id": "rs1192312647", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1192312647" } ], "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": "16", "chr_pos": "11782351", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S2", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "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": "Q8IWR0-1.376.376", "start_pos": 376, "end_pos": 376, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWR0", "url": "https://oglcnac.org/atlas/detail/Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWR0", "url": "https://oglcnac.org/atlas/detail/Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" }, { "database": "O-GlcNAc Atlas", "id": "Q8IWR0", "url": "https://oglcnac.org/atlas/detail/Q8IWR0" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "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": "Q8IWR0", "url": "https://oglcnac.org/atlas/detail/Q8IWR0" } ], "reference": [ { "type": "PubMed", "id": "35513511", "url": "https://glygen.org/publication/PubMed/35513511" } ] } ], "crossref": [ { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IWR0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0", "database": "O-GlcNAc Database", "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": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101", "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": "Q8IWR0", "url": "https://oglcnac.org/atlas/detail/Q8IWR0", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "35513511", "url": "https://glygen.org/publication/PubMed/35513511", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CSSLNSFSMSESKRDLSTST", "down_seq": "REGTPLNNSNSSLLLMNGPG", "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": "Ser376", "evidence": [ { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "Q8IWR0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IWR0" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "40307207", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40307207" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "Q8IWR0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IWR0" }, { "id": "35513511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35513511" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q8IWR0-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8IWR0-1.395.395", "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": 10 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8IWR0-1.103.103", "start_pos": 103, "end_pos": 103, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWR0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "IPKEIIEKLYINRIACYSNM", "down_seq": "FHDKVLEDCNIVLSLNASNC", "snv": [ { "evidence": [ { "id": "Q8IWR0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0" } ], "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 (NMG->NMC).", "chr_id": "16", "chr_pos": "11776909", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G103", "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": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "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": "Q8IWR0-1.225.225", "start_pos": 225, "end_pos": 225, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs750113755", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750113755", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750113755", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750113755", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750113755", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750113755#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs750113755", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750113755", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EPDLLTPRQEAVPVVSLPAP", "down_seq": "FSHEVGSELASVPVMPLTSI", "snv": [ { "evidence": [ { "id": "rs750113755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750113755" }, { "id": "rs750113755", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750113755" }, { "id": "rs750113755", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750113755#frequency_tab" }, { "id": "rs750113755", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750113755" } ], "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 (SFS->NFS).", "chr_id": "16", "chr_pos": "11774465", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S225", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8IWR0-1.210.210", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q8IWR0-1.220.220", "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": "Q8IWR0-1.385.385", "start_pos": 385, "end_pos": 385, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs771896143", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771896143", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771896143", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771896143", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771896143", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771896143#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs771896143", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771896143", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SESKRDLSTSTSREGTPLNN", "down_seq": "NSSLLLMNGPGSLFASENFL", "snv": [ { "evidence": [ { "id": "rs771896143", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771896143" }, { "id": "rs771896143", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771896143" }, { "id": "rs771896143", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771896143#frequency_tab" }, { "id": "rs771896143", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771896143" } ], "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 (SNS->NNS).", "chr_id": "16", "chr_pos": "11769050", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S385", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8IWR0-1.376.376", "categories": [ "glycosylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8IWR0-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8IWR0-1.402.402", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWR0-1.395.395", "start_pos": 395, "end_pos": 395, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1413783042", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413783042", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1413783042", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1413783042", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TSREGTPLNNSNSSLLLMNG", "down_seq": "GSLFASENFLGISSQPRNDF", "snv": [ { "evidence": [ { "id": "rs1413783042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1413783042" }, { "id": "rs1413783042", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1413783042" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NGP->NGS).", "chr_id": "16", "chr_pos": "11768492", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P395", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8IWR0-1.376.376", "categories": [ "glycosylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8IWR0-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8IWR0-1.402.402", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWR0-1.402.402", "start_pos": 402, "end_pos": 402, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWR0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "LNNSNSSLLLMNGPGSLFAS", "down_seq": "NFLGISSQPRNDFGNFFGSA", "snv": [ { "evidence": [ { "id": "Q8IWR0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "11768469", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E402", "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: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": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8IWR0-1.385.385", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8IWR0-1.395.395", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8IWR0-1.419.419", "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": "Q8IWR0-1.40.40", "start_pos": 40, "end_pos": 40, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWR0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QFIQSPLSYPGTQEQYAVYL", "down_seq": "ALVRNLFNEGNDVYREHDWN", "snv": [ { "evidence": [ { "id": "Q8IWR0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0" } ], "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": "16", "chr_pos": "11779353", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R40", "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": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "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": "Q8IWR0-1.419.419", "start_pos": 419, "end_pos": 419, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs761745197", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761745197", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs761745197", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761745197", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs761745197", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761745197", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "FASENFLGISSQPRNDFGNF", "down_seq": "GSAVTKPSSSVTPRHPLEGT", "snv": [ { "evidence": [ { "id": "rs761745197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761745197" }, { "id": "rs761745197", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761745197" }, { "id": "rs761745197", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761745197" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFF->NFS).", "chr_id": "16", "chr_pos": "11768419", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F419", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q8IWR0-1.402.402", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWR0-1.459.459", "start_pos": 459, "end_pos": 459, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWR0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1403540681", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1403540681", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1403540681", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1403540681#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "THELRQACQICFVKSGPKLM", "down_seq": "FTYHANIDHKCKKDILIGRI", "snv": [ { "evidence": [ { "id": "Q8IWR0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0" }, { "id": "rs1403540681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1403540681" }, { "id": "rs1403540681", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1403540681#frequency_tab" } ], "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 (DFT->NFT).", "chr_id": "16", "chr_pos": "11767564", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D459", "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": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "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": "Q8IWR0-1.483.483", "start_pos": 483, "end_pos": 483, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWR0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "HANIDHKCKKDILIGRIKNV", "down_seq": "DKSWKKIRPRPTKTNYEGPY", "snv": [ { "evidence": [ { "id": "Q8IWR0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "11767492", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E483", "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": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q8IWR0-1.484.484", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWR0-1.484.484", "start_pos": 484, "end_pos": 484, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWR0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2141181540", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141181540", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2141181540", "url": "https://www.ensembl.org/id/rs2141181540", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2141181540", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2141181540", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ANIDHKCKKDILIGRIKNVE", "down_seq": "KSWKKIRPRPTKTNYEGPYY", "snv": [ { "evidence": [ { "id": "Q8IWR0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0" }, { "id": "rs2141181540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2141181540" }, { "id": "rs2141181540", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2141181540" }, { "id": "rs2141181540", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2141181540" } ], "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 (DKS->NKS).", "chr_id": "16", "chr_pos": "11767489", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D484", "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": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q8IWR0-1.483.483", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWR0-1.520.520", "start_pos": 520, "end_pos": 520, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1596384436", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596384436", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1596384436", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1596384436#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "EGPYYICKDVAAEEECRYSG", "down_seq": "CTFAYCQEEIDVWTLERKGA", "snv": [ { "evidence": [ { "id": "rs1596384436", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596384436" }, { "id": "rs1596384436", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1596384436#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HCT->NCT).", "chr_id": "16", "chr_pos": "11765650", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H520", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "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": "Q8IWR0-1.592.592", "start_pos": 592, "end_pos": 592, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWR0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "CEKCFDHKPRMISKRNKDNS", "down_seq": "ACSHPVTKHEFEDNKCLVHI", "snv": [ { "evidence": [ { "id": "Q8IWR0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (TAC->NAC).", "chr_id": "16", "chr_pos": "11765098", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T592", "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": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "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": "Q8IWR0-1.73.73", "start_pos": 73, "end_pos": 73, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWR0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1161453957", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1161453957", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1161453957", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1161453957#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1161453957", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1161453957", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VYREHDWNNSISQYTEALNI", "down_seq": "DYAKSEEILIPKEIIEKLYI", "snv": [ { "evidence": [ { "id": "Q8IWR0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0" } ], "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 (NIA->NIS).", "chr_id": "16", "chr_pos": "11779255", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A73", "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": "rs1161453957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1161453957" }, { "id": "rs1161453957", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1161453957#frequency_tab" }, { "id": "rs1161453957", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1161453957" } ], "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": "16", "chr_pos": "11779255", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A73", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "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": "Q8IWR0-1.773.773", "start_pos": 773, "end_pos": 773, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1266677127", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1266677127", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1266677127", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1266677127", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RKKWMNIRPLPTKKQMPLQF", "down_seq": "LCNHIASGKKCQYVGNCSFA", "snv": [ { "evidence": [ { "id": "rs1266677127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1266677127" }, { "id": "rs1266677127", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1266677127" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DLC->NLC).", "chr_id": "16", "chr_pos": "11761408", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D773", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q8IWR0-1.778.778", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWR0-1.778.778", "start_pos": 778, "end_pos": 778, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1291919242", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1291919242", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1291919242", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1291919242#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1291919242", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1291919242", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "NIRPLPTKKQMPLQFDLCNH", "down_seq": "ASGKKCQYVGNCSFAHSPEE", "snv": [ { "evidence": [ { "id": "rs1291919242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1291919242" }, { "id": "rs1291919242", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1291919242#frequency_tab" }, { "id": "rs1291919242", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1291919242" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NHI->NHT).", "chr_id": "16", "chr_pos": "11758526", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I778", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q8IWR0-1.773.773", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IWR0-1.852.852", "start_pos": 852, "end_pos": 852, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IWR0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "IASQSNKENGKQIHMPTDYA", "down_seq": "VTVDFHCWMCGKNCNSEKQW", "snv": [ { "evidence": [ { "id": "Q8IWR0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IWR0" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "11756245", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E852", "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: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": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "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": "Q8IWR0-1.210.210", "start_pos": 210, "end_pos": 210, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" }, { "database": "iPTMnet", "id": "Q8IWR0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWR0" } ], "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": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" }, { "database": "iPTMnet", "id": "Q8IWR0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWR0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] } ], "crossref": [ { "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0", "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": "Q8IWR0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWR0", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GDGATKALNHSVEDIEPDLL", "down_seq": "PRQEAVPVVSLPAPSFSHEV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" }, { "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": "Q8IWR0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWR0" } ], "site_lbl": "Thr210" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q8IWR0-1.220.220", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8IWR0-1.225.225", "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": "Q8IWR0-1.318.318", "start_pos": 318, "end_pos": 318, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "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": "iPTMnet", "id": "Q8IWR0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWR0-1" } ], "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": "Q8IWR0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWR0-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8IWR0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWR0", "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": "S", "start_aa": "S", "up_seq": "ETVMPSALVRGPLQTASVSP", "down_seq": "MPFSASLLGTLPIGARYAPP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8IWR0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWR0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser318" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "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": "Q8IWR0-1.750.750", "start_pos": 750, "end_pos": 750, "uniprot_canonical_ac": "Q8IWR0-1", "length": 971, "uniprot_id": "Z3H7A_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 7A", "refseq_ac": "NP_054872", "refseq_name": "zinc finger CCCH domain-containing protein 7A", "gene_name": "ZC3H7A", "gene_names_uniprotkb": "ZC3H7A; HSPC055; ZC3H7; ZC3HDC7", "gene_names_refseq": "HSPC055; ZC3H7A; ZC3H7; ZC3HDC7", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IWR0", "url": "https://www.uniprot.org/uniprotkb/Q8IWR0" } ], "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": "iPTMnet", "id": "Q8IWR0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWR0-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "Q8IWR0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWR0", "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": "YCSAKARHSWTKDRRAMRVM", "down_seq": "IERKKWMNIRPLPTKKQMPL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8IWR0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IWR0" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser750" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "snv", "site_list": [ { "start_pos": "103", "end_pos": "103" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "385", "end_pos": "385" }, { "start_pos": "395", "end_pos": "395" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "459", "end_pos": "459" }, { "start_pos": "483", "end_pos": "483" }, { "start_pos": "484", "end_pos": "484" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "73", "end_pos": "73" }, { "start_pos": "773", "end_pos": "773" }, { "start_pos": "778", "end_pos": "778" }, { "start_pos": "852", "end_pos": "852" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "210", "end_pos": "210" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "750", "end_pos": "750" } ] } ], "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": "Q6PDB4-1.139.139", "start_pos": 139, "end_pos": 139, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "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": "rs750891968", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750891968", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs750891968", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750891968", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs750891968", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750891968", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LQLFQAERNISGCKHVEKPI", "down_seq": "NSLVSPLQKIYSSVKSHILN", "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": "PINNSLVSPLQK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn139", "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": "rs750891968", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750891968" }, { "id": "rs750891968", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750891968" }, { "id": "rs750891968", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750891968" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NNS->KNS).", "chr_id": "19", "chr_pos": "52383997", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N139", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q6PDB4-1.141.141", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q6PDB4-1.149.149", "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": "Q6PDB4-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "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": "Q6PDB4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PDB4" } ], "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": "Q6PDB4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PDB4", "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": "Q6PDB4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6PDB4" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "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": "Q6PDB4-1.141.141", "start_pos": 141, "end_pos": 141, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PDB4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LFQAERNISGCKHVEKPINN", "down_seq": "LVSPLQKIYSSVKSHILNKY", "snv": [ { "evidence": [ { "id": "Q6PDB4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4" } ], "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 (NNS->NNF).", "chr_id": "19", "chr_pos": "52384002", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S141", "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" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q6PDB4-1.139.139", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6PDB4-1.149.149", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PDB4-1.149.149", "start_pos": 149, "end_pos": 149, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs915351547", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs915351547", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs915351547", "url": "https://www.ncbi.nlm.nih.gov/snp/rs915351547#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs915351547", "url": "http://gnomad.broadinstitute.org/awesome?query=rs915351547", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "SGCKHVEKPINNSLVSPLQK", "down_seq": "YSSVKSHILNKYRNDFDDSP", "snv": [ { "evidence": [ { "id": "rs915351547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs915351547" }, { "id": "rs915351547", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs915351547#frequency_tab" }, { "id": "rs915351547", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs915351547" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IYS->NYS).", "chr_id": "19", "chr_pos": "52384026", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I149", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q6PDB4-1.139.139", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q6PDB4-1.141.141", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PDB4-1.243.243", "start_pos": 243, "end_pos": 243, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs867370178", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867370178", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs867370178", "url": "https://www.ensembl.org/id/rs867370178", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "NSSNLVQHQRIHTGEKPYKC", "down_seq": "ECGKLFNRISLLARHQRIHT", "snv": [ { "evidence": [ { "id": "rs867370178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867370178" }, { "id": "rs867370178", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867370178" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (HEC->NEC).", "chr_id": "19", "chr_pos": "52384307", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H243", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "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": "Q6PDB4-1.271.271", "start_pos": 271, "end_pos": 271, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PDB4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1986796979", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1986796979", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1986796979", "url": "https://www.ensembl.org/id/rs1986796979", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "RISLLARHQRIHTGEKPYKC", "down_seq": "ECGKVFTQNSHLANHHRIHT", "snv": [ { "evidence": [ { "id": "Q6PDB4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4" }, { "id": "rs1986796979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1986796979" }, { "id": "rs1986796979", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1986796979" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HEC->NEC).", "chr_id": "19", "chr_pos": "52384391", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H271", "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", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "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": "Q6PDB4-1.296.296", "start_pos": 296, "end_pos": 296, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs781193396", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781193396", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs781193396", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781193396", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs781193396", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781193396#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs781193396", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781193396", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "VFTQNSHLANHHRIHTGEKP", "down_seq": "KCNECGKVFNRNAHLARHQK", "snv": [ { "evidence": [ { "id": "rs781193396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781193396" }, { "id": "rs781193396", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781193396" }, { "id": "rs781193396", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs781193396#frequency_tab" }, { "id": "rs781193396", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781193396" } ], "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 (YKC->NKC).", "chr_id": "19", "chr_pos": "52384466", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y296", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "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": "Q6PDB4-1.327.327", "start_pos": 327, "end_pos": 327, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs201995005", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201995005", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201995005", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201995005", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RNAHLARHQKIHSGEKPYKC", "down_seq": "ECGKAFSGGSGLTAHLVIHT", "snv": [ { "evidence": [ { "id": "rs201995005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201995005" }, { "id": "rs201995005", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201995005" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KEC->NEC).", "chr_id": "19", "chr_pos": "52384561", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K327", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "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": "Q6PDB4-1.363.363", "start_pos": 363, "end_pos": 363, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PDB4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LVIHTGEKLYKCNKCGKVFN", "down_seq": "NAHLTRHQRIHTGEKPYECK", "snv": [ { "evidence": [ { "id": "Q6PDB4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4" } ], "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": "19", "chr_pos": "52384667", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R363", "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": "Q6PDB4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4" } ], "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": "19", "chr_pos": "52384668", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R363", "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": "139", "end_pos": "139" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q6PDB4-1.383.383", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q6PDB4-1.383.383", "start_pos": 383, "end_pos": 383, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775621220", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775621220", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775621220", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775621220", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775621220", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775621220#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs775621220", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775621220", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RNAHLTRHQRIHTGEKPYEC", "down_seq": "ECGKVFRHKFCLTNHHRMHT", "snv": [ { "evidence": [ { "id": "rs775621220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775621220" }, { "id": "rs775621220", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775621220" }, { "id": "rs775621220", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775621220#frequency_tab" }, { "id": "rs775621220", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775621220" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KEC->NEC).", "chr_id": "19", "chr_pos": "52384729", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K383", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q6PDB4-1.363.363", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q6PDB4-1.403.403", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PDB4-1.403.403", "start_pos": 403, "end_pos": 403, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PDB4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KECGKVFRHKFCLTNHHRMH", "down_seq": "GEQPYKCNECGKAFRDCSGL", "snv": [ { "evidence": [ { "id": "Q6PDB4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4" } ], "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": "19", "chr_pos": "52384788", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T403", "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: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": "139", "end_pos": "139" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q6PDB4-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q6PDB4-1.406.406", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q6PDB4-1.413.413", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PDB4-1.406.406", "start_pos": 406, "end_pos": 406, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PDB4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "GKVFRHKFCLTNHHRMHTGE", "down_seq": "PYKCNECGKAFRDCSGLTAH", "snv": [ { "evidence": [ { "id": "Q6PDB4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "19", "chr_pos": "52384797", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Q406", "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: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: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: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": "139", "end_pos": "139" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q6PDB4-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q6PDB4-1.413.413", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PDB4-1.413.413", "start_pos": 413, "end_pos": 413, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PDB4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "FCLTNHHRMHTGEQPYKCNE", "down_seq": "GKAFRDCSGLTAHLLIHTGE", "snv": [ { "evidence": [ { "id": "Q6PDB4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "C", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "52384818", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "C413", "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: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" } ] }, { "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": "139", "end_pos": "139" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q6PDB4-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q6PDB4-1.406.406", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PDB4-1.467.467", "start_pos": 467, "end_pos": 467, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs751838845", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751838845", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs751838845", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751838845", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs751838845", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751838845#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs751838845", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751838845", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "HRLSLSNHQRFHTGEKPYRC", "down_seq": "ECGKDFTRNSNLANHHRIHT", "snv": [ { "evidence": [ { "id": "rs751838845", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751838845" }, { "id": "rs751838845", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751838845" }, { "id": "rs751838845", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751838845#frequency_tab" }, { "id": "rs751838845", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751838845" } ], "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": "19", "chr_pos": "52384979", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D467", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q6PDB4-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6PDB4-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q6PDB4-1.478.478", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PDB4-1.471.471", "start_pos": 471, "end_pos": 471, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PDB4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LSNHQRFHTGEKPYRCDECG", "down_seq": "DFTRNSNLANHHRIHTGEKP", "snv": [ { "evidence": [ { "id": "Q6PDB4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "52384992", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K471", "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: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": "139", "end_pos": "139" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q6PDB4-1.467.467", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q6PDB4-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q6PDB4-1.478.478", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PDB4-1.475.475", "start_pos": 475, "end_pos": 475, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PDB4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QRFHTGEKPYRCDECGKDFT", "down_seq": "NSNLANHHRIHTGEKPYKCS", "snv": [ { "evidence": [ { "id": "Q6PDB4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4" } ], "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 (3).", "chr_id": "19", "chr_pos": "52385004", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R475", "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: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" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q6PDB4-1.467.467", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q6PDB4-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q6PDB4-1.478.478", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q6PDB4-1.495.495", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PDB4-1.478.478", "start_pos": 478, "end_pos": 478, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs771867544", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771867544", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs771867544", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771867544", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs771867544", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771867544#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs771867544", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771867544", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "HTGEKPYRCDECGKDFTRNS", "down_seq": "LANHHRIHTGEKPYKCSECH", "snv": [ { "evidence": [ { "id": "rs771867544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771867544" }, { "id": "rs771867544", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771867544" }, { "id": "rs771867544", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771867544#frequency_tab" }, { "id": "rs771867544", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771867544" } ], "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": "19", "chr_pos": "52385013", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N478", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q6PDB4-1.467.467", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q6PDB4-1.471.471", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q6PDB4-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q6PDB4-1.495.495", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PDB4-1.495.495", "start_pos": 495, "end_pos": 495, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775981676", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775981676", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775981676", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775981676", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775981676", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775981676#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs775981676", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775981676", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RNSNLANHHRIHTGEKPYKC", "down_seq": "ECHKVFSHNSHLARHRQIHT", "snv": [ { "evidence": [ { "id": "rs775981676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775981676" }, { "id": "rs775981676", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775981676" }, { "id": "rs775981676", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775981676#frequency_tab" }, { "id": "rs775981676", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775981676" } ], "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 (SEC->NEC).", "chr_id": "19", "chr_pos": "52385064", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S495", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q6PDB4-1.475.475", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q6PDB4-1.478.478", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PDB4-1.540.540", "start_pos": 540, "end_pos": 540, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PDB4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YKCNECGKVFSHKLYLKKHE", "down_seq": "IHTGEKPYRCHECGKDFTRN", "snv": [ { "evidence": [ { "id": "Q6PDB4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "52385199", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R540", "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: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" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q6PDB4-1.551.551", "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": "Q6PDB4-1.551.551", "start_pos": 551, "end_pos": 551, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PDB4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "HKLYLKKHERIHTGEKPYRC", "down_seq": "ECGKDFTRNSNLANHHRIHT", "snv": [ { "evidence": [ { "id": "Q6PDB4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HEC->NEC).", "chr_id": "19", "chr_pos": "52385231", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H551", "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" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q6PDB4-1.540.540", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q6PDB4-1.564.564", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PDB4-1.564.564", "start_pos": 564, "end_pos": 564, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1261541820", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1261541820", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1261541820", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1261541820", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "GEKPYRCHECGKDFTRNSNL", "down_seq": "NHHRIHTGEKPYR", "snv": [ { "evidence": [ { "id": "rs1261541820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1261541820" }, { "id": "rs1261541820", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1261541820" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "19", "chr_pos": "52385270", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A564", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "139", "end_pos": "139" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q6PDB4-1.551.551", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6PDB4-1.78.78", "start_pos": 78, "end_pos": 78, "uniprot_canonical_ac": "Q6PDB4-1", "length": 577, "uniprot_id": "ZN880_HUMAN", "protein_name": "Zinc finger protein 880", "refseq_ac": "NP_001138906", "refseq_name": "zinc finger protein 880", "gene_name": "ZNF880", "gene_names_uniprotkb": "ZNF880", "gene_names_refseq": "ZNF880", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6PDB4", "url": "https://www.uniprot.org/uniprotkb/Q6PDB4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6PDB4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "MLEQRRDPRNLQSEVKIANN", "down_seq": "GGRECIKGVNAESSSKLGSN", "snv": [ { "evidence": [ { "id": "Q6PDB4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6PDB4" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NNP->NNT).", "chr_id": "19", "chr_pos": "52374391", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P78", "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" } ] }, { "type": "snv", "site_list": [ { "start_pos": "139", "end_pos": "139" }, { "start_pos": "141", "end_pos": "141" }, { "start_pos": "149", "end_pos": "149" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "296", "end_pos": "296" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "363", "end_pos": "363" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "406", "end_pos": "406" }, { "start_pos": "413", "end_pos": "413" }, { "start_pos": "467", "end_pos": "467" }, { "start_pos": "471", "end_pos": "471" }, { "start_pos": "475", "end_pos": "475" }, { "start_pos": "478", "end_pos": "478" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "540", "end_pos": "540" }, { "start_pos": "551", "end_pos": "551" }, { "start_pos": "564", "end_pos": "564" }, { "start_pos": "78", "end_pos": "78" } ] } ], "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": "Q9H6R6-1.328.329", "start_pos": 328, "end_pos": 329, "uniprot_canonical_ac": "Q9H6R6-1", "length": 413, "uniprot_id": "ZDHC6_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC6", "refseq_ac": "NP_001290063", "refseq_name": "palmitoyltransferase ZDHHC6 isoform 2", "gene_name": "ZDHHC6", "gene_names_uniprotkb": "ZDHHC6; ZNF376", "gene_names_refseq": "DHHC-6; DHHC6; ZDHHC6; ZNF376", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification and dynamics of the human ZDHHC16-ZDHHC6 palmitoylation cascade.", "journal": "eLife", "date": "2017", "authors": "Abrami L, Dallavilla T, Sandoz PA, Demir M, Kunz B, Savoglidis G, Hatzimanikatis V, van der Goot FG", "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" }, { "database": "RefSeq", "id": "NP_001290063", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290063" } ], "reference": [ { "type": "PubMed", "id": "28826475", "url": "https://glygen.org/publication/PubMed/28826475" } ] } ], "crossref": [ { "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "28826475", "url": "https://glygen.org/publication/PubMed/28826475", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "CC", "start_aa": "C", "up_seq": "KADKRVRSVRYKVIEDYSGA", "down_seq": "PLNKGIKTFFTSPCTEEPRI", "mutagenesis": [ { "sequence_org": "CC", "sequence_mut": "AA", "comment": "Abolishes palmitoylation, leading to impaired homooligomeization and decreased catalytic activity; when associated with A-343.", "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" }, { "database": "PubMed", "id": "28826475", "url": "https://glygen.org/publication/PubMed/28826475" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "328", "end_pos": "329" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" } ] }, { "type": "snv", "site_list": [ { "start_pos": "303", "end_pos": "303" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q9H6R6-1.343.343", "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": "Q9H6R6-1.343.343", "start_pos": 343, "end_pos": 343, "uniprot_canonical_ac": "Q9H6R6-1", "length": 413, "uniprot_id": "ZDHC6_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC6", "refseq_ac": "NP_001290063", "refseq_name": "palmitoyltransferase ZDHHC6 isoform 2", "gene_name": "ZDHHC6", "gene_names_uniprotkb": "ZDHHC6; ZNF376", "gene_names_refseq": "DHHC-6; DHHC6; ZDHHC6; ZNF376", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Identification and dynamics of the human ZDHHC16-ZDHHC6 palmitoylation cascade.", "journal": "eLife", "date": "2017", "authors": "Abrami L, Dallavilla T, Sandoz PA, Demir M, Kunz B, Savoglidis G, Hatzimanikatis V, van der Goot FG", "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" }, { "database": "RefSeq", "id": "NP_001290063", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290063" } ], "reference": [ { "type": "PubMed", "id": "28826475", "url": "https://glygen.org/publication/PubMed/28826475" } ] } ], "crossref": [ { "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "28826475", "url": "https://glygen.org/publication/PubMed/28826475", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "DYSGACCPLNKGIKTFFTSP", "down_seq": "TEEPRIQLQKGEFILATRGL", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes palmitoylation, leading to impaired homooligomeization and decreased catalytic activity; when associated with 328-A-A-329.", "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" }, { "database": "PubMed", "id": "28826475", "url": "https://glygen.org/publication/PubMed/28826475" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "328", "end_pos": "329" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" } ] }, { "type": "snv", "site_list": [ { "start_pos": "303", "end_pos": "303" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9H6R6-1.328.329", "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": "Q9H6R6-1.409.409", "start_pos": 409, "end_pos": 409, "uniprot_canonical_ac": "Q9H6R6-1", "length": 413, "uniprot_id": "ZDHC6_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC6", "refseq_ac": "NP_001290063", "refseq_name": "palmitoyltransferase ZDHHC6 isoform 2", "gene_name": "ZDHHC6", "gene_names_uniprotkb": "ZDHHC6; ZNF376", "gene_names_refseq": "DHHC-6; DHHC6; ZDHHC6; ZNF376", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Endoplasmic reticulum localization of DHHC palmitoyltransferases mediated by lysine-based sorting signals.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Gorleku OA, Barns AM, Prescott GR, Greaves J, Chamberlain LH", "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" } ], "reference": [ { "type": "PubMed", "id": "21926431", "url": "https://glygen.org/publication/PubMed/21926431" } ] } ], "crossref": [ { "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21926431", "url": "https://glygen.org/publication/PubMed/21926431", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "PRKCVEKCPCDAETDQAPEG", "down_seq": "KKNR", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Does not affect localization to the endoplasmic reticulum.", "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" }, { "database": "PubMed", "id": "21926431", "url": "https://glygen.org/publication/PubMed/21926431" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "328", "end_pos": "329" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" } ] }, { "type": "snv", "site_list": [ { "start_pos": "303", "end_pos": "303" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q9H6R6-1.410.410", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9H6R6-1.411.411", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9H6R6-1.412.412", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9H6R6-1.413.413", "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": "Q9H6R6-1.410.410", "start_pos": 410, "end_pos": 410, "uniprot_canonical_ac": "Q9H6R6-1", "length": 413, "uniprot_id": "ZDHC6_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC6", "refseq_ac": "NP_001290063", "refseq_name": "palmitoyltransferase ZDHHC6 isoform 2", "gene_name": "ZDHHC6", "gene_names_uniprotkb": "ZDHHC6; ZNF376", "gene_names_refseq": "DHHC-6; DHHC6; ZDHHC6; ZNF376", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Endoplasmic reticulum localization of DHHC palmitoyltransferases mediated by lysine-based sorting signals.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Gorleku OA, Barns AM, Prescott GR, Greaves J, Chamberlain LH", "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" } ], "reference": [ { "type": "PubMed", "id": "21926431", "url": "https://glygen.org/publication/PubMed/21926431" } ] } ], "crossref": [ { "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21926431", "url": "https://glygen.org/publication/PubMed/21926431", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RKCVEKCPCDAETDQAPEGE", "down_seq": "KNR", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Impaired localization to the endoplasmic reticulum.", "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" }, { "database": "PubMed", "id": "21926431", "url": "https://glygen.org/publication/PubMed/21926431" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "328", "end_pos": "329" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" } ] }, { "type": "snv", "site_list": [ { "start_pos": "303", "end_pos": "303" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9H6R6-1.409.409", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9H6R6-1.411.411", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9H6R6-1.412.412", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9H6R6-1.413.413", "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": "Q9H6R6-1.411.411", "start_pos": 411, "end_pos": 411, "uniprot_canonical_ac": "Q9H6R6-1", "length": 413, "uniprot_id": "ZDHC6_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC6", "refseq_ac": "NP_001290063", "refseq_name": "palmitoyltransferase ZDHHC6 isoform 2", "gene_name": "ZDHHC6", "gene_names_uniprotkb": "ZDHHC6; ZNF376", "gene_names_refseq": "DHHC-6; DHHC6; ZDHHC6; ZNF376", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Endoplasmic reticulum localization of DHHC palmitoyltransferases mediated by lysine-based sorting signals.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Gorleku OA, Barns AM, Prescott GR, Greaves J, Chamberlain LH", "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" } ], "reference": [ { "type": "PubMed", "id": "21926431", "url": "https://glygen.org/publication/PubMed/21926431" } ] } ], "crossref": [ { "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21926431", "url": "https://glygen.org/publication/PubMed/21926431", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KCVEKCPCDAETDQAPEGEK", "down_seq": "NR", "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Impaired localization to the endoplasmic reticulum.", "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" }, { "database": "PubMed", "id": "21926431", "url": "https://glygen.org/publication/PubMed/21926431" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "328", "end_pos": "329" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" } ] }, { "type": "snv", "site_list": [ { "start_pos": "303", "end_pos": "303" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9H6R6-1.409.409", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9H6R6-1.410.410", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9H6R6-1.412.412", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9H6R6-1.413.413", "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": "Q9H6R6-1.412.412", "start_pos": 412, "end_pos": 412, "uniprot_canonical_ac": "Q9H6R6-1", "length": 413, "uniprot_id": "ZDHC6_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC6", "refseq_ac": "NP_001290063", "refseq_name": "palmitoyltransferase ZDHHC6 isoform 2", "gene_name": "ZDHHC6", "gene_names_uniprotkb": "ZDHHC6; ZNF376", "gene_names_refseq": "DHHC-6; DHHC6; ZDHHC6; ZNF376", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Endoplasmic reticulum localization of DHHC palmitoyltransferases mediated by lysine-based sorting signals.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Gorleku OA, Barns AM, Prescott GR, Greaves J, Chamberlain LH", "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" } ], "reference": [ { "type": "PubMed", "id": "21926431", "url": "https://glygen.org/publication/PubMed/21926431" } ] } ], "crossref": [ { "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21926431", "url": "https://glygen.org/publication/PubMed/21926431", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "CVEKCPCDAETDQAPEGEKK", "down_seq": "", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Does not affect localization to the endoplasmic reticulum.", "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" }, { "database": "PubMed", "id": "21926431", "url": "https://glygen.org/publication/PubMed/21926431" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "328", "end_pos": "329" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" } ] }, { "type": "snv", "site_list": [ { "start_pos": "303", "end_pos": "303" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9H6R6-1.409.409", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9H6R6-1.410.410", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9H6R6-1.411.411", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9H6R6-1.413.413", "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": "Q9H6R6-1.413.413", "start_pos": 413, "end_pos": 413, "uniprot_canonical_ac": "Q9H6R6-1", "length": 413, "uniprot_id": "ZDHC6_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC6", "refseq_ac": "NP_001290063", "refseq_name": "palmitoyltransferase ZDHHC6 isoform 2", "gene_name": "ZDHHC6", "gene_names_uniprotkb": "ZDHHC6; ZNF376", "gene_names_refseq": "DHHC-6; DHHC6; ZDHHC6; ZNF376", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Endoplasmic reticulum localization of DHHC palmitoyltransferases mediated by lysine-based sorting signals.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Gorleku OA, Barns AM, Prescott GR, Greaves J, Chamberlain LH", "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" } ], "reference": [ { "type": "PubMed", "id": "21926431", "url": "https://glygen.org/publication/PubMed/21926431" } ] } ], "crossref": [ { "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "21926431", "url": "https://glygen.org/publication/PubMed/21926431", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VEKCPCDAETDQAPEGEKKN", "down_seq": "", "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Does not affect localization to the endoplasmic reticulum.", "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" }, { "database": "PubMed", "id": "21926431", "url": "https://glygen.org/publication/PubMed/21926431" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "328", "end_pos": "329" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" } ] }, { "type": "snv", "site_list": [ { "start_pos": "303", "end_pos": "303" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9H6R6-1.409.409", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9H6R6-1.410.410", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9H6R6-1.411.411", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9H6R6-1.412.412", "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": "Q9H6R6-1.303.303", "start_pos": 303, "end_pos": 303, "uniprot_canonical_ac": "Q9H6R6-1", "length": 413, "uniprot_id": "ZDHC6_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC6", "refseq_ac": "NP_001290063", "refseq_name": "palmitoyltransferase ZDHHC6 isoform 2", "gene_name": "ZDHHC6", "gene_names_uniprotkb": "ZDHHC6; ZNF376", "gene_names_refseq": "DHHC-6; DHHC6; ZDHHC6; ZNF376", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6R6", "url": "https://www.uniprot.org/uniprotkb/Q9H6R6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6R6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6R6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "EGDGLEWPVREGCHQYSLTI", "down_seq": "QLKQKADKRVRSVRYKVIED", "snv": [ { "evidence": [ { "id": "Q9H6R6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6R6" } ], "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": "10", "chr_pos": "112433278", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E303", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "328", "end_pos": "329" }, { "start_pos": "343", "end_pos": "343" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "410", "end_pos": "410" }, { "start_pos": "411", "end_pos": "411" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "413", "end_pos": "413" } ] }, { "type": "snv", "site_list": [ { "start_pos": "303", "end_pos": "303" } ] } ], "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": "Q8NB50-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q8NB50-1", "length": 900, "uniprot_id": "ZFP62_HUMAN", "protein_name": "Zinc finger protein 62 homolog", "refseq_ac": "NP_001166109", "refseq_name": "zinc finger protein 62 homolog isoform 2", "gene_name": "ZFP62", "gene_names_uniprotkb": "ZFP62", "gene_names_refseq": "ZET; ZFP62; ZNF755", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NB50", "url": "https://www.uniprot.org/uniprotkb/Q8NB50" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8NB50", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NB50" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] } ], "crossref": [ { "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8NB50", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NB50", "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": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "Q8NB50", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NB50" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "853", "end_pos": "853" } ] } ], "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": "Q8NB50-1.853.853", "start_pos": 853, "end_pos": 853, "uniprot_canonical_ac": "Q8NB50-1", "length": 900, "uniprot_id": "ZFP62_HUMAN", "protein_name": "Zinc finger protein 62 homolog", "refseq_ac": "NP_001166109", "refseq_name": "zinc finger protein 62 homolog isoform 2", "gene_name": "ZFP62", "gene_names_uniprotkb": "ZFP62", "gene_names_refseq": "ZET; ZFP62; ZNF755", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NB50", "url": "https://www.uniprot.org/uniprotkb/Q8NB50" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8NB50", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NB50", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IHTGKKPYRCNECGKAFNIR", "down_seq": "NLTKHKRTHTGEESLNVIYV", "snv": [ { "evidence": [ { "id": "Q8NB50", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NB50" } ], "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": "5", "chr_pos": "180848937", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S853", "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" ] }, { "evidence": [ { "id": "Q8NB50", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NB50" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "S", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "5", "chr_pos": "180848938", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S853", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "853", "end_pos": "853" } ] } ], "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": "P37275-1.398.398", "start_pos": 398, "end_pos": 398, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "GGPLQATSSPQGMVQAVVLP", "down_seq": "VGLVSPISINLSDIQNVLKV", "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": "Thr398", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "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": 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": "P37275-1.702.702", "start_pos": 702, "end_pos": 702, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "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": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "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": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs961869387", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs961869387", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs961869387", "url": "https://www.ncbi.nlm.nih.gov/snp/rs961869387#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs961869387", "url": "http://gnomad.broadinstitute.org/awesome?query=rs961869387", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs961869387", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs961869387", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275", "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": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KMTNSPVLPVGSTTNGSRSS", "down_seq": "PSPSPLNLSSSRNTQGYLYT", "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": "Thr702", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" }, { "id": "rs961869387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs961869387" }, { "id": "rs961869387", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs961869387#frequency_tab" }, { "id": "rs961869387", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs961869387" }, { "id": "rs961869387", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs961869387" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "10", "chr_pos": "31521439", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T702", "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" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "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": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "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": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Thr702" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P37275-1.682.682", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "P37275-1.686.686", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P37275-1.687.687", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P37275-1.693.693", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P37275-1.700.700", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P37275-1.701.701", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P37275-1.704.704", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P37275-1.706.706", "categories": [ "phosphorylation_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": 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": 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": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P37275-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37275" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "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": "P37275", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37275" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "crossref": [ { "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P37275", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37275", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "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": "P37275", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P37275" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P37275-1.1015.1015", "start_pos": 1015, "end_pos": 1015, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "STEQEEAGPEILSNEHVGAR", "down_seq": "SPSQGDSDERESLTREEDED", "snv": [ { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "31526933", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A1015", "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: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "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": "P37275-1.1070.1070", "start_pos": 1070, "end_pos": 1070, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "LQEEKECEKPQGDEEEEEEE", "down_seq": "EVEEEEVEEAENEGEEAKTE", "snv": [ { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" } ], "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": "10", "chr_pos": "31527097", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E1070", "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": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "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": "P37275-1.23.23", "start_pos": 23, "end_pos": 23, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "DGPRCKRRKQANPRRNNVTN", "down_seq": "NTVVETNSDSDDEDKLHIVE", "snv": [ { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (YNT->NNT).", "chr_id": "10", "chr_pos": "31461045", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "Y23", "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": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "P37275-1.31.31", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P37275-1.33.33", "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": "P37275-1.290.290", "start_pos": 290, "end_pos": 290, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "CPNCKKRFSHSGSYSSHISS", "down_seq": "KCISLIPVNGRPRTGLKTSQ", "snv": [ { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" } ], "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 (KKC->NKC).", "chr_id": "10", "chr_pos": "31520205", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K290", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "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": "P37275-1.325.325", "start_pos": 325, "end_pos": 325, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GLKTSQCSSPSLSASPGSPT", "down_seq": "PQIRQKIENKPLQEQLSVNQ", "snv": [ { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "31520308", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R325", "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: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": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" } ], "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": "10", "chr_pos": "31520309", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R325", "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: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": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P37275-1.312.312", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "downstream", "id": "P37275-1.313.313", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P37275-1.315.315", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P37275-1.317.317", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P37275-1.319.319", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P37275-1.322.322", "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": "P37275-1.437.437", "start_pos": 437, "end_pos": 437, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "KVAVDGNVIRQVLENNQANL", "down_seq": "SKEQETINASPIQQGGHSVI", "snv": [ { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLS).", "chr_id": "10", "chr_pos": "31520644", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A437", "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": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "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": "P37275-1.519.519", "start_pos": 519, "end_pos": 519, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1230655535", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230655535", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1230655535", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1230655535#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1230655535", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1230655535", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1230655535", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1230655535", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ATNSCKSEKLPEDLTVKSEK", "down_seq": "KSFEGGVNDSTCLLCDDCPG", "snv": [ { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" }, { "id": "rs1230655535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230655535" }, { "id": "rs1230655535", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1230655535#frequency_tab" }, { "id": "rs1230655535", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1230655535" }, { "id": "rs1230655535", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1230655535" } ], "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 (DKS->NKS).", "chr_id": "10", "chr_pos": "31520890", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D519", "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": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "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": "P37275-1.655.655", "start_pos": 655, "end_pos": 655, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2072303121", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2072303121", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2072303121", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2072303121#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2072303121", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2072303121", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2072303121", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2072303121", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "GQISVQSSEPSSPEPGKVNI", "down_seq": "AKNNDQPQSANANEPQDSTV", "snv": [ { "evidence": [ { "id": "rs2072303121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2072303121" }, { "id": "rs2072303121", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2072303121#frequency_tab" }, { "id": "rs2072303121", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2072303121" }, { "id": "rs2072303121", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2072303121" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NIP->NIS).", "chr_id": "10", "chr_pos": "31521298", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P655", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P37275-1.642.642", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "P37275-1.645.645", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P37275-1.646.646", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P37275-1.659.659", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P37275-1.673.673", "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": "P37275-1.659.659", "start_pos": 659, "end_pos": 659, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "VQSSEPSSPEPGKVNIPAKN", "down_seq": "DQPQSANANEPQDSTVNLQS", "snv": [ { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "10", "chr_pos": "31521310", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "N659", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P37275-1.642.642", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P37275-1.645.645", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P37275-1.646.646", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P37275-1.655.655", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P37275-1.673.673", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P37275-1.679.679", "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": "P37275-1.682.682", "start_pos": 682, "end_pos": 682, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PQSANANEPQDSTVNLQSPL", "down_seq": "MTNSPVLPVGSTTNGSRSST", "snv": [ { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" } ], "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 (KMT->NMT).", "chr_id": "10", "chr_pos": "31521381", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K682", "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": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P37275-1.673.673", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P37275-1.679.679", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P37275-1.686.686", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P37275-1.687.687", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P37275-1.693.693", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P37275-1.700.700", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P37275-1.701.701", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P37275-1.702.702", "categories": [ "glycosylation_flag", "snv_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": "P37275-1.687.687", "start_pos": 687, "end_pos": 687, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "ANEPQDSTVNLQSPLKMTNS", "down_seq": "VLPVGSTTNGSRSSTPSPSP", "snv": [ { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSP->NST).", "chr_id": "10", "chr_pos": "31521394", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P687", "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": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P37275-1.673.673", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P37275-1.679.679", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P37275-1.682.682", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P37275-1.686.686", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P37275-1.693.693", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P37275-1.700.700", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P37275-1.701.701", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P37275-1.702.702", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P37275-1.704.704", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P37275-1.706.706", "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": "P37275-1.70.70", "start_pos": 70, "end_pos": 70, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "AADCEGVPEDDLPTDQTVLP", "down_seq": "RSSEREGNAKNCWEDDRKEG", "snv": [ { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "G", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "10", "chr_pos": "31461186", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G70", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "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": "P37275-1.780.780", "start_pos": 780, "end_pos": 780, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VYSVQEEPLNLSCAKKEPQK", "down_seq": "SCVTDSEPVVNVIPPSANPI", "snv": [ { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" } ], "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 (DSC->NSC).", "chr_id": "10", "chr_pos": "31521673", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D780", "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": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "P37275-1.793.793", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P37275-1.793.793", "start_pos": 793, "end_pos": 793, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "AKKEPQKDSCVTDSEPVVNV", "down_seq": "PPSANPINIAIPTVTAQLPT", "snv": [ { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" } ], "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 (NVI->NVT).", "chr_id": "10", "chr_pos": "31521713", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I793", "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": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P37275-1.780.780", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P37275-1.803.803", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P37275-1.803.803", "start_pos": 803, "end_pos": 803, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs148358382", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148358382", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs148358382", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148358382", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs148358382", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148358382#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs148358382", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148358382", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs148358382", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148358382", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VTDSEPVVNVIPPSANPINI", "down_seq": "IPTVTAQLPTIVAIADQNSV", "snv": [ { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" }, { "id": "rs148358382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148358382" }, { "id": "rs148358382", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148358382" }, { "id": "rs148358382", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148358382#frequency_tab" }, { "id": "rs148358382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148358382" }, { "id": "rs148358382", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs148358382" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NIA->NIT).", "chr_id": "10", "chr_pos": "31521742", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A803", "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", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P37275-1.793.793", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P37275-1.952.952", "start_pos": 952, "end_pos": 952, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "HECGICKKAFKHKHHLIEHM", "down_seq": "LHSGEKPYQCDKCGKRFSHS", "snv": [ { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "10", "chr_pos": "31526743", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R952", "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: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": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "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": "P37275-1.982.982", "start_pos": 982, "end_pos": 982, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs554002482", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554002482", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs554002482", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs554002482", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs554002482", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554002482", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs554002482", "url": "http://gnomad.broadinstitute.org/awesome?query=rs554002482", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs554002482", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs554002482", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CDKCGKRFSHSGSYSQHMNH", "down_seq": "YSYCKREAEERDSTEQEEAG", "snv": [ { "evidence": [ { "id": "rs554002482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554002482" }, { "id": "rs554002482", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs554002482" }, { "id": "rs554002482", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs554002482" }, { "id": "rs554002482", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs554002482" }, { "id": "rs554002482", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs554002482" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NHR->NHC).", "chr_id": "10", "chr_pos": "31526833", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R982", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" } ], "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 (NHR->NHS).", "chr_id": "10", "chr_pos": "31526833", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R982", "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": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "P37275-1.994.994", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "P37275-1.994.994", "start_pos": 994, "end_pos": 994, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37275", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "SYSQHMNHRYSYCKREAEER", "down_seq": "STEQEEAGPEILSNEHVGAR", "snv": [ { "evidence": [ { "id": "P37275", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P37275" } ], "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 (DST->NST).", "chr_id": "10", "chr_pos": "31526869", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D994", "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": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "P37275-1.982.982", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P37275-1.312.312", "start_pos": 312, "end_pos": 312, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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": "CISLIPVNGRPRTGLKTSQC", "down_seq": "SPSLSASPGSPTRPQIRQKI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser312" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "P37275-1.313.313", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P37275-1.315.315", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P37275-1.317.317", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P37275-1.319.319", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P37275-1.322.322", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P37275-1.325.325", "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": "P37275-1.313.313", "start_pos": 313, "end_pos": 313, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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": "ISLIPVNGRPRTGLKTSQCS", "down_seq": "PSLSASPGSPTRPQIRQKIE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser313" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "P37275-1.312.312", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P37275-1.315.315", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P37275-1.317.317", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P37275-1.319.319", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P37275-1.322.322", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "P37275-1.325.325", "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": "P37275-1.315.315", "start_pos": 315, "end_pos": 315, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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": "LIPVNGRPRTGLKTSQCSSP", "down_seq": "LSASPGSPTRPQIRQKIENK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser315" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "P37275-1.312.312", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P37275-1.313.313", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P37275-1.317.317", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P37275-1.319.319", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P37275-1.322.322", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P37275-1.325.325", "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": "P37275-1.317.317", "start_pos": 317, "end_pos": 317, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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": "PVNGRPRTGLKTSQCSSPSL", "down_seq": "ASPGSPTRPQIRQKIENKPL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser317" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "P37275-1.312.312", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P37275-1.313.313", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P37275-1.315.315", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P37275-1.319.319", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P37275-1.322.322", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P37275-1.325.325", "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": "P37275-1.319.319", "start_pos": 319, "end_pos": 319, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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": "NGRPRTGLKTSQCSSPSLSA", "down_seq": "PGSPTRPQIRQKIENKPLQE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser319" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "P37275-1.312.312", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P37275-1.313.313", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P37275-1.315.315", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P37275-1.317.317", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P37275-1.322.322", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P37275-1.325.325", "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": "P37275-1.31.31", "start_pos": 31, "end_pos": 31, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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": "KQANPRRNNVTNYNTVVETN", "down_seq": "DSDDEDKLHIVEEESVTDAA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser31" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "P37275-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P37275-1.33.33", "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": "P37275-1.322.322", "start_pos": 322, "end_pos": 322, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PRTGLKTSQCSSPSLSASPG", "down_seq": "PTRPQIRQKIENKPLQEQLS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" } ], "site_lbl": "Ser322" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P37275-1.312.312", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P37275-1.313.313", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P37275-1.315.315", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P37275-1.317.317", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P37275-1.319.319", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P37275-1.325.325", "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": "P37275-1.33.33", "start_pos": 33, "end_pos": 33, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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": "ANPRRNNVTNYNTVVETNSD", "down_seq": "DDEDKLHIVEEESVTDAADC", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser33" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P37275-1.23.23", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P37275-1.31.31", "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": "P37275-1.583.583", "start_pos": 583, "end_pos": 583, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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": "AAEAEKPESSVSSATGDGNL", "down_seq": "PSQPPLKNLLSLLKAYYALN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser583" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "P37275-1.585.585", "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": "P37275-1.585.585", "start_pos": 585, "end_pos": 585, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ATM-mediated stabilization of ZEB1 promotes DNA damage response and radioresistance through CHK1.", "journal": "Nature cell biology", "date": "2014", "authors": "Zhang P, Wei Y, Wang L, Debeb BG, Yuan Y, Zhang J, Yuan J, Wang M, Chen D, Sun Y, Woodward WA, Liu Y, Dean DC, Liang H, Hu Y, Ang KK, Hung MC, Chen J, Ma L", "evidence": [ { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" } ], "reference": [ { "type": "PubMed", "id": "25086746", "url": "https://glygen.org/publication/PubMed/25086746" } ] }, { "title": "miR-205 acts as a tumour radiosensitizer by targeting ZEB1 and Ubc13.", "journal": "Nature communications", "date": "2014", "authors": "Zhang P, Wang L, Rodriguez-Aguayo C, Yuan Y, Debeb BG, Chen D, Sun Y, You MJ, Liu Y, Dean DC, Woodward WA, Liang H, Yang X, Lopez-Berestein G, Sood AK, Hu Y, Ang KK, Chen J, Ma L", "evidence": [ { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" } ], "reference": [ { "type": "PubMed", "id": "25476932", "url": "https://glygen.org/publication/PubMed/25476932" } ] } ], "crossref": [ { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "25086746", "url": "https://glygen.org/publication/PubMed/25086746", "database": "PubMed", "categories": [ "Other" ] }, { "id": "25476932", "url": "https://glygen.org/publication/PubMed/25476932", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EAEKPESSVSSATGDGNLSP", "down_seq": "QPPLKNLLSLLKAYYALNAQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "25086746", "url": "https://glygen.org/publication/PubMed/25086746" }, { "database": "PubMed", "id": "25476932", "url": "https://glygen.org/publication/PubMed/25476932" } ], "site_lbl": "Ser585" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "P37275-1.583.583", "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": "P37275-1.642.642", "start_pos": 642, "end_pos": 642, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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": "LDVVKKWFEKMQAGQISVQS", "down_seq": "EPSSPEPGKVNIPAKNNDQP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser642" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "P37275-1.645.645", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P37275-1.646.646", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P37275-1.655.655", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P37275-1.659.659", "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": "P37275-1.645.645", "start_pos": 645, "end_pos": 645, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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": "VKKWFEKMQAGQISVQSSEP", "down_seq": "SPEPGKVNIPAKNNDQPQSA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser645" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "P37275-1.642.642", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P37275-1.646.646", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "P37275-1.655.655", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P37275-1.659.659", "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": "P37275-1.646.646", "start_pos": 646, "end_pos": 646, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "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": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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": "KKWFEKMQAGQISVQSSEPS", "down_seq": "PEPGKVNIPAKNNDQPQSAN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "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": "Ser646" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "P37275-1.642.642", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P37275-1.645.645", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P37275-1.655.655", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P37275-1.659.659", "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": "P37275-1.673.673", "start_pos": 673, "end_pos": 673, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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": "NIPAKNNDQPQSANANEPQD", "down_seq": "TVNLQSPLKMTNSPVLPVGS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser673" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P37275-1.655.655", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P37275-1.659.659", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P37275-1.679.679", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P37275-1.682.682", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P37275-1.686.686", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P37275-1.687.687", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P37275-1.693.693", "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": "P37275-1.679.679", "start_pos": 679, "end_pos": 679, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "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": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "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": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275", "database": "UniProtKB", "categories": [ "Protein" ] }, { "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": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NDQPQSANANEPQDSTVNLQ", "down_seq": "PLKMTNSPVLPVGSTTNGSR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser679" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P37275-1.659.659", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P37275-1.673.673", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P37275-1.682.682", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P37275-1.686.686", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P37275-1.687.687", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P37275-1.693.693", "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": "P37275-1.686.686", "start_pos": 686, "end_pos": 686, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NANEPQDSTVNLQSPLKMTN", "down_seq": "PVLPVGSTTNGSRSSTPSPS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "site_lbl": "Ser686" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P37275-1.673.673", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P37275-1.679.679", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P37275-1.682.682", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P37275-1.687.687", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P37275-1.693.693", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "P37275-1.700.700", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "P37275-1.701.701", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P37275-1.702.702", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P37275-1.704.704", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "P37275-1.706.706", "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": "P37275-1.693.693", "start_pos": 693, "end_pos": 693, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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": "STVNLQSPLKMTNSPVLPVG", "down_seq": "TTNGSRSSTPSPSPLNLSSS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser693" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P37275-1.673.673", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P37275-1.679.679", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P37275-1.682.682", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P37275-1.686.686", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P37275-1.687.687", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P37275-1.700.700", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "P37275-1.701.701", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P37275-1.702.702", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P37275-1.704.704", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P37275-1.706.706", "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": "P37275-1.700.700", "start_pos": 700, "end_pos": 700, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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": "PLKMTNSPVLPVGSTTNGSR", "down_seq": "STPSPSPLNLSSSRNTQGYL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser700" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P37275-1.682.682", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P37275-1.686.686", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P37275-1.687.687", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P37275-1.693.693", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P37275-1.701.701", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P37275-1.702.702", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "P37275-1.704.704", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "P37275-1.706.706", "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": "P37275-1.701.701", "start_pos": 701, "end_pos": 701, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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": "LKMTNSPVLPVGSTTNGSRS", "down_seq": "TPSPSPLNLSSSRNTQGYLY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser701" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P37275-1.682.682", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "P37275-1.686.686", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "P37275-1.687.687", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "P37275-1.693.693", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "P37275-1.700.700", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "P37275-1.702.702", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "P37275-1.704.704", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P37275-1.706.706", "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": "P37275-1.704.704", "start_pos": 704, "end_pos": 704, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "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": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TNSPVLPVGSTTNGSRSSTP", "down_seq": "PSPLNLSSSRNTQGYLYTAE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser704" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P37275-1.686.686", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "P37275-1.687.687", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "P37275-1.693.693", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P37275-1.700.700", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "P37275-1.701.701", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P37275-1.702.702", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P37275-1.706.706", "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": "P37275-1.706.706", "start_pos": 706, "end_pos": 706, "uniprot_canonical_ac": "P37275-1", "length": 1124, "uniprot_id": "ZEB1_HUMAN", "protein_name": "Zinc finger E-box-binding homeobox 1", "refseq_ac": "NP_001121600", "refseq_name": "zinc finger E-box-binding homeobox 1 isoform a", "gene_name": "ZEB1", "gene_names_uniprotkb": "ZEB1; AREB6; TCF8", "gene_names_refseq": "AREB6; BZP; DELTAEF1; FECD6; NIL2A; PPCD3; TCF8; ZEB1; ZFHEP; ZFHX1A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" } ], "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": "P37275", "url": "https://www.uniprot.org/uniprotkb/P37275" }, { "database": "iPTMnet", "id": "P37275-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275", "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": "SPVLPVGSTTNGSRSSTPSP", "down_seq": "PLNLSSSRNTQGYLYTAEGA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P37275", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P37275" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser706" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "398", "end_pos": "398" }, { "start_pos": "702", "end_pos": "702" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1015", "end_pos": "1015" }, { "start_pos": "1070", "end_pos": "1070" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "290", "end_pos": "290" }, { "start_pos": "325", "end_pos": "325" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "519", "end_pos": "519" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "659", "end_pos": "659" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "687", "end_pos": "687" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "780", "end_pos": "780" }, { "start_pos": "793", "end_pos": "793" }, { "start_pos": "803", "end_pos": "803" }, { "start_pos": "952", "end_pos": "952" }, { "start_pos": "982", "end_pos": "982" }, { "start_pos": "994", "end_pos": "994" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "312", "end_pos": "312" }, { "start_pos": "313", "end_pos": "313" }, { "start_pos": "315", "end_pos": "315" }, { "start_pos": "317", "end_pos": "317" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "322", "end_pos": "322" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "583", "end_pos": "583" }, { "start_pos": "585", "end_pos": "585" }, { "start_pos": "642", "end_pos": "642" }, { "start_pos": "645", "end_pos": "645" }, { "start_pos": "646", "end_pos": "646" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "686", "end_pos": "686" }, { "start_pos": "693", "end_pos": "693" }, { "start_pos": "700", "end_pos": "700" }, { "start_pos": "701", "end_pos": "701" }, { "start_pos": "702", "end_pos": "702" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "706", "end_pos": "706" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P37275-1.686.686", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "downstream", "id": "P37275-1.687.687", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "P37275-1.693.693", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "P37275-1.700.700", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "P37275-1.701.701", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "P37275-1.702.702", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P37275-1.704.704", "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": "Q52M93-1.479.479", "start_pos": 479, "end_pos": 479, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "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": "Q52M93", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q52M93" }, { "database": "O-GlcNAc Atlas", "id": "Q52M93", "url": "https://oglcnac.org/atlas/detail/Q52M93" } ], "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": "Q52M93", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q52M93", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "Q52M93", "url": "https://oglcnac.org/atlas/detail/Q52M93", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs868603011", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868603011", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs868603011", "url": "https://www.ensembl.org/id/rs868603011", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IHTGEKPYVCNKCGKAFTNR", "down_seq": "NLITHQKTHTGEKSYICSKC", "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": "Ser479", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q52M93", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q52M93" }, { "id": "Q52M93", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q52M93" } ] } ], "snv": [ { "evidence": [ { "id": "rs868603011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868603011" }, { "id": "rs868603011", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs868603011" } ], "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": "19", "chr_pos": "37186101", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S479", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q52M93-1.491.491", "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": "Q52M93-1.647.647", "start_pos": 647, "end_pos": 647, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "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": "Q52M93", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q52M93" }, { "database": "O-GlcNAc Atlas", "id": "Q52M93", "url": "https://oglcnac.org/atlas/detail/Q52M93" } ], "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": "Q52M93", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q52M93", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "Q52M93", "url": "https://oglcnac.org/atlas/detail/Q52M93", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs762987434", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762987434", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs762987434", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762987434", "database": "ExAC", "categories": [ "Other" ] }, { "id": "Q52M93", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs201482378", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201482378", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201482378", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201482378", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs201482378", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201482378", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs201482378", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201482378", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VHTGEKPYVCAECGKAFSGR", "down_seq": "NLSKHQKTHTGEKPYICSEC", "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": "Ser647", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q52M93", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q52M93" }, { "id": "Q52M93", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q52M93" } ] } ], "snv": [ { "evidence": [ { "id": "rs762987434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762987434" }, { "id": "rs762987434", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762987434" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (S->*).", "chr_id": "19", "chr_pos": "37185597", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S647", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q52M93", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93" }, { "id": "rs201482378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201482378" }, { "id": "rs201482378", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201482378" }, { "id": "rs201482378", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201482378" }, { "id": "rs201482378", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201482378" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->A).", "chr_id": "19", "chr_pos": "37185598", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S647", "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: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" ] }, { "evidence": [ { "id": "rs762987434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762987434" }, { "id": "rs762987434", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762987434" } ], "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": "19", "chr_pos": "37185597", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S647", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q52M93-1.655.655", "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": 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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q52M93-1.138.138", "start_pos": 138, "end_pos": 138, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1459912070", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1459912070", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1459912070", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1459912070", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SQDQKIYSGEKSYECAEFGK", "down_seq": "FTWKSQFKVHLKVPTGEKLY", "snv": [ { "evidence": [ { "id": "rs1459912070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1459912070" }, { "id": "rs1459912070", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1459912070" } ], "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 (SFT->NFT).", "chr_id": "19", "chr_pos": "37187124", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S138", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "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": "Q52M93-1.330.330", "start_pos": 330, "end_pos": 330, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q52M93", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "KSQLQVHQRVHTRVKPYICT", "down_seq": "YGKVFSNNSNLITHEKIQSR", "snv": [ { "evidence": [ { "id": "Q52M93", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93" } ], "glycoeffect": [], "subjects_tested": "2617", "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": "37186549", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E330", "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: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": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "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": "Q52M93-1.35.35", "start_pos": 35, "end_pos": 35, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q52M93", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs371971240", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371971240", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs371971240", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371971240", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs371971240", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371971240#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs371971240", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371971240", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs371971240", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371971240", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "APEDHGSSYEGSVSFRDVAI", "down_seq": "FSREEWRHLDLSQRNLYRDV", "snv": [ { "evidence": [ { "id": "Q52M93", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93" }, { "id": "rs371971240", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371971240" }, { "id": "rs371971240", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371971240" }, { "id": "rs371971240", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371971240#frequency_tab" }, { "id": "rs371971240", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371971240" }, { "id": "rs371971240", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371971240" } ], "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 (DFS->NFS).", "chr_id": "19", "chr_pos": "37190120", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D35", "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": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "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": "Q52M93-1.374.374", "start_pos": 374, "end_pos": 374, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q52M93", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SICTECGKAFTYRSELIIHQ", "down_seq": "IHTGEKPYECSDCGRAFTQK", "snv": [ { "evidence": [ { "id": "Q52M93", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "6", "frequency": "0.4", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "37186416", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R374", "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": "glycosylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q52M93-1.386.386", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q52M93-1.386.386", "start_pos": 386, "end_pos": 386, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q52M93", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RSELIIHQRIHTGEKPYECS", "down_seq": "CGRAFTQKSALTVHQRIHTG", "snv": [ { "evidence": [ { "id": "Q52M93", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "37186379", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D386", "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": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q52M93-1.374.374", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q52M93-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q52M93-1.403.403", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q52M93-1.402.402", "start_pos": 402, "end_pos": 402, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q52M93", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YECSDCGRAFTQKSALTVHQ", "down_seq": "IHTGEKSYICMKCGLAFIRK", "snv": [ { "evidence": [ { "id": "Q52M93", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "7", "frequency": "0.4", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "37186332", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R402", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q52M93-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q52M93-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q52M93-1.409.409", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q52M93-1.403.403", "start_pos": 403, "end_pos": 403, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1972333191", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1972333191", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1972333191", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1972333191#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "ECSDCGRAFTQKSALTVHQR", "down_seq": "HTGEKSYICMKCGLAFIRKA", "snv": [ { "evidence": [ { "id": "rs1972333191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1972333191" }, { "id": "rs1972333191", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1972333191#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IHT->NHT).", "chr_id": "19", "chr_pos": "37186329", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I403", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q52M93-1.386.386", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q52M93-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q52M93-1.409.409", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q52M93-1.409.409", "start_pos": 409, "end_pos": 409, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q52M93", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RAFTQKSALTVHQRIHTGEK", "down_seq": "YICMKCGLAFIRKAHLITHQ", "snv": [ { "evidence": [ { "id": "Q52M93", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "15", "frequency": "0.7", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: patient count (15/2053).", "chr_id": "19", "chr_pos": "37186311", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S409", "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": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q52M93-1.402.402", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q52M93-1.403.403", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q52M93-1.426.426", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q52M93-1.426.426", "start_pos": 426, "end_pos": 426, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q52M93", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "GEKSYICMKCGLAFIRKAHL", "down_seq": "THQIIHTGEKPYKCGHCGKL", "snv": [ { "evidence": [ { "id": "Q52M93", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "I", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "37186261", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I426", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q52M93-1.409.409", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "Q52M93-1.458.458", "start_pos": 458, "end_pos": 458, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q52M93", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YKCGHCGKLFTSKSQLHVHK", "down_seq": "IHTGEKPYVCNKCGKAFTNR", "snv": [ { "evidence": [ { "id": "Q52M93", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93" } ], "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": "19", "chr_pos": "37186164", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R458", "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": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "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": "Q52M93-1.491.491", "start_pos": 491, "end_pos": 491, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q52M93", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "CGKAFTNRSNLITHQKTHTG", "down_seq": "KSYICSKCGKAFTQRSDLIT", "snv": [ { "evidence": [ { "id": "Q52M93", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "37186064", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E491", "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": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q52M93-1.479.479", "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": "Q52M93-1.4.4", "start_pos": 4, "end_pos": 4, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q52M93", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MPA", "down_seq": "WTSPQKSSALAPEDHGSSYE", "snv": [ { "evidence": [ { "id": "Q52M93", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SWT->NWT).", "chr_id": "19", "chr_pos": "37207101", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S4", "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": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "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": "Q52M93-1.550.550", "start_pos": 550, "end_pos": 550, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs774960837", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774960837", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774960837", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774960837", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774960837", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774960837", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "AFTQKSNLNIHQKIHTGERQ", "down_seq": "ECHECGKAFNQKSILIVHQK", "snv": [ { "evidence": [ { "id": "rs774960837", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774960837" }, { "id": "rs774960837", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774960837" }, { "id": "rs774960837", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774960837" } ], "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 (YEC->NEC).", "chr_id": "19", "chr_pos": "37185889", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y550", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "upstream", "id": "Q52M93-1.562.562", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q52M93-1.562.562", "start_pos": 562, "end_pos": 562, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q52M93", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KIHTGERQYECHECGKAFNQ", "down_seq": "SILIVHQKIHTGEKPYVCTE", "snv": [ { "evidence": [ { "id": "Q52M93", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NQK->NQT).", "chr_id": "19", "chr_pos": "37185852", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K562", "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": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q52M93-1.550.550", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q52M93-1.609.609", "start_pos": 609, "end_pos": 609, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs367958049", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367958049", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs367958049", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367958049", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs367958049", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367958049", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RKSNFITHQRIHTGEKPYEC", "down_seq": "DCGKSFTSKSQLLVHQPVHT", "snv": [ { "evidence": [ { "id": "rs367958049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367958049" }, { "id": "rs367958049", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367958049" }, { "id": "rs367958049", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367958049" } ], "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 (SDC->NDC).", "chr_id": "19", "chr_pos": "37185711", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S609", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "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": "Q52M93-1.655.655", "start_pos": 655, "end_pos": 655, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775170036", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775170036", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775170036", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775170036", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775170036", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775170036#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs775170036", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775170036", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "VCAECGKAFSGRSNLSKHQK", "down_seq": "HTGEKPYICSECGKTFRQKS", "snv": [ { "evidence": [ { "id": "rs775170036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775170036" }, { "id": "rs775170036", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775170036" }, { "id": "rs775170036", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775170036#frequency_tab" }, { "id": "rs775170036", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775170036" } ], "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 (THT->NHT).", "chr_id": "19", "chr_pos": "37185573", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T655", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q52M93-1.647.647", "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": "Q52M93-1.711.711", "start_pos": 711, "end_pos": 711, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1354261955", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1354261955", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1354261955", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1354261955", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "ECSDCGKSFTKKSQLQVHQR", "down_seq": "HTGEKPYVCAECGKAFSNRS", "snv": [ { "evidence": [ { "id": "rs1354261955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1354261955" }, { "id": "rs1354261955", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1354261955" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IHT->NHT).", "chr_id": "19", "chr_pos": "37185405", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I711", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q52M93-1.718.718", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q52M93-1.718.718", "start_pos": 718, "end_pos": 718, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1177673127", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1177673127", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1177673127", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1177673127", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "SFTKKSQLQVHQRIHTGEKP", "down_seq": "VCAECGKAFSNRSNLNKHQT", "snv": [ { "evidence": [ { "id": "rs1177673127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1177673127" }, { "id": "rs1177673127", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1177673127" } ], "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 (YVC->NVC).", "chr_id": "19", "chr_pos": "37185385", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y718", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "start_pos": "763", "end_pos": "763" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q52M93-1.711.711", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q52M93-1.763.763", "start_pos": 763, "end_pos": 763, "uniprot_canonical_ac": "Q52M93-1", "length": 769, "uniprot_id": "Z585B_HUMAN", "protein_name": "Zinc finger protein 585B", "refseq_ac": "NP_689492", "refseq_name": "zinc finger protein 585B", "gene_name": "ZNF585B", "gene_names_uniprotkb": "ZNF585B", "gene_names_refseq": "SZFP41; ZNF585B; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q52M93", "url": "https://www.uniprot.org/uniprotkb/Q52M93" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q52M93", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "DKPYKCGICGKGFVQKSVFS", "down_seq": "HQSSHA", "snv": [ { "evidence": [ { "id": "Q52M93", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q52M93" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "V", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "37185250", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V763", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "647", "end_pos": "647" } ] }, { "type": "snv", "site_list": [ { "start_pos": "138", "end_pos": "138" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "402", "end_pos": "402" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "409", "end_pos": "409" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "479", "end_pos": "479" }, { "start_pos": "491", "end_pos": "491" }, { "start_pos": "4", "end_pos": "4" }, { "start_pos": "550", "end_pos": "550" }, { "start_pos": "562", "end_pos": "562" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "647", "end_pos": "647" }, { "start_pos": "655", "end_pos": "655" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "718", "end_pos": "718" }, { "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": 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": "Q8IVC4-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q8IVC4-1", "length": 421, "uniprot_id": "ZN584_HUMAN", "protein_name": "Zinc finger protein 584", "refseq_ac": "NP_001304931", "refseq_name": "zinc finger protein 584 isoform 2", "gene_name": "ZNF584", "gene_names_uniprotkb": "ZNF584", "gene_names_refseq": "ZNF584", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IVC4", "url": "https://www.uniprot.org/uniprotkb/Q8IVC4" } ], "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": "Q8IVC4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IVC4" } ], "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": "Q8IVC4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IVC4", "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": "Q8IVC4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IVC4" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "248", "end_pos": "248" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "417", "end_pos": "417" } ] } ], "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": "Q8IVC4-1.248.248", "start_pos": 248, "end_pos": 248, "uniprot_canonical_ac": "Q8IVC4-1", "length": 421, "uniprot_id": "ZN584_HUMAN", "protein_name": "Zinc finger protein 584", "refseq_ac": "NP_001304931", "refseq_name": "zinc finger protein 584 isoform 2", "gene_name": "ZNF584", "gene_names_uniprotkb": "ZNF584", "gene_names_refseq": "ZNF584", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IVC4", "url": "https://www.uniprot.org/uniprotkb/Q8IVC4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IVC4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IVC4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "KLRKHQKVHTGIKPFKCSDC", "down_seq": "KTFNRKDALVLHQRIHTGER", "snv": [ { "evidence": [ { "id": "Q8IVC4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IVC4" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "58417260", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G248", "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": "248", "end_pos": "248" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "417", "end_pos": "417" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q8IVC4-1.253.253", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IVC4-1.253.253", "start_pos": 253, "end_pos": 253, "uniprot_canonical_ac": "Q8IVC4-1", "length": 421, "uniprot_id": "ZN584_HUMAN", "protein_name": "Zinc finger protein 584", "refseq_ac": "NP_001304931", "refseq_name": "zinc finger protein 584 isoform 2", "gene_name": "ZNF584", "gene_names_uniprotkb": "ZNF584", "gene_names_refseq": "ZNF584", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IVC4", "url": "https://www.uniprot.org/uniprotkb/Q8IVC4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IVC4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IVC4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QKVHTGIKPFKCSDCGKTFN", "down_seq": "KDALVLHQRIHTGERPYECS", "snv": [ { "evidence": [ { "id": "Q8IVC4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IVC4" } ], "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": "19", "chr_pos": "58417276", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R253", "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: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": "248", "end_pos": "248" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "417", "end_pos": "417" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q8IVC4-1.248.248", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IVC4-1.417.417", "start_pos": 417, "end_pos": 417, "uniprot_canonical_ac": "Q8IVC4-1", "length": 421, "uniprot_id": "ZN584_HUMAN", "protein_name": "Zinc finger protein 584", "refseq_ac": "NP_001304931", "refseq_name": "zinc finger protein 584 isoform 2", "gene_name": "ZNF584", "gene_names_uniprotkb": "ZNF584", "gene_names_refseq": "ZNF584", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IVC4", "url": "https://www.uniprot.org/uniprotkb/Q8IVC4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IVC4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IVC4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LLQHKKVHTPERRQEDRAHG", "down_seq": "VVSC", "snv": [ { "evidence": [ { "id": "Q8IVC4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IVC4" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "58417769", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K417", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "248", "end_pos": "248" }, { "start_pos": "253", "end_pos": "253" }, { "start_pos": "417", "end_pos": "417" } ] } ], "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": "Q7Z570-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7Z570", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z570" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] } ], "crossref": [ { "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q7Z570", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z570", "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": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "Q7Z570", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7Z570" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "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": "Q7Z570-1.770.770", "start_pos": 770, "end_pos": 770, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QNQAVKRGYNSVMNESERFY", "down_seq": "KRRQHSHSYSSDESLNRQNH", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "11", "frequency": "0.5", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 2 filters: patient count (11/2053); num. of cancers (7).", "chr_id": "2", "chr_pos": "184937705", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R770", "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: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: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: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" ] }, { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [], "subjects_tested": "606", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "2", "chr_pos": "184937704", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R770", "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" } ] }, { "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: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": "snv", "site_list": [ { "start_pos": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q7Z570-1.781.781", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q7Z570-1.97.97", "start_pos": 97, "end_pos": 97, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NSYDHAHKQRLKELKQREFA", "down_seq": "NVASKSRKDERKQEKALQRL", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "11", "frequency": "0.5", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 2 filters: patient count (11/2053); num. of cancers (3).", "chr_id": "2", "chr_pos": "184933637", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R97", "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: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": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q7Z570-1.108.108", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q7Z570-1.111.111", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z570-1.1077.1077", "start_pos": 1077, "end_pos": 1077, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "QPNMLANKVKFTFPPAALPP", "down_seq": "STPLQPLPLQQSLCSTSVTT", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "184938625", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1077", "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: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "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": "Q7Z570-1.108.108", "start_pos": 108, "end_pos": 108, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KELKQREFARNVASKSRKDE", "down_seq": "KQEKALQRLHKLAELRKETV", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "184933670", "ref_nt": "G", "alt_nt": "A", "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: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": "snv", "site_list": [ { "start_pos": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q7Z570-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q7Z570-1.111.111", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z570-1.111.111", "start_pos": 111, "end_pos": 111, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "KQREFARNVASKSRKDERKQ", "down_seq": "KALQRLHKLAELRKETVCAP", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "184933678", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E111", "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: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": "snv", "site_list": [ { "start_pos": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q7Z570-1.97.97", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q7Z570-1.108.108", "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": "Q7Z570-1.150.150", "start_pos": 150, "end_pos": 150, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "APGSGPMFKSTTVTVRENCN", "down_seq": "ISQRVVVDSVNNQQDFKYTL", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "10", "frequency": "0.5", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: patient count (10/2053).", "chr_id": "2", "chr_pos": "184935844", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E150", "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": "snv", "site_list": [ { "start_pos": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "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": "Q7Z570-1.189.189", "start_pos": 189, "end_pos": 189, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TLIHSEENTKDATTVAEDPE", "down_seq": "ANNYTAKNNQVGDQAQGIHR", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "184935961", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S189", "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": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "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": "Q7Z570-1.224.224", "start_pos": 224, "end_pos": 224, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "AQGIHRHKIGFSFAFPKKAS", "down_seq": "KLESSAAAFSEYSDDASVGK", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "184936066", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V224", "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: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": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "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": "Q7Z570-1.357.357", "start_pos": 357, "end_pos": 357, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "LESVVINEDIPVSGNSFELL", "down_seq": "NKSTVLDMSNDCISVQATTE", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "184936465", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G357", "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": "snv", "site_list": [ { "start_pos": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "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": "Q7Z570-1.512.512", "start_pos": 512, "end_pos": 512, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "ICMGPLSDYKDVSTEGLTDY", "down_seq": "IGSSKNKCSQVTPLLADDIL", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "184936930", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E512", "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: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": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "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": "Q7Z570-1.554.554", "start_pos": 554, "end_pos": 554, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SSCDSGKNENTGQRYKNISC", "down_seq": "IRETEKYNFTKSQIKQDTLD", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "184937058", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K554", "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": "snv", "site_list": [ { "start_pos": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q7Z570-1.556.556", "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": "Q7Z570-1.556.556", "start_pos": 556, "end_pos": 556, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CDSGKNENTGQRYKNISCKI", "down_seq": "ETEKYNFTKSQIKQDTLDEK", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "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": "2", "chr_pos": "184937062", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R556", "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": "snv", "site_list": [ { "start_pos": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q7Z570-1.554.554", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q7Z570-1.575.575", "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": "Q7Z570-1.575.575", "start_pos": 575, "end_pos": 575, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "IRETEKYNFTKSQIKQDTLD", "down_seq": "KYNKIRLKETHEYWFHKSRR", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "18", "frequency": "0.9", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: patient count (18/2053).", "chr_id": "2", "chr_pos": "184937119", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E575", "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": "snv", "site_list": [ { "start_pos": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q7Z570-1.556.556", "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": "Q7Z570-1.66.66", "start_pos": 66, "end_pos": 66, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "IAKALEDLKANFYCELCDKQ", "down_seq": "YKHQEFDNHINSYDHAHKQR", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "184866454", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y66", "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": "snv", "site_list": [ { "start_pos": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "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": "Q7Z570-1.745.745", "start_pos": 745, "end_pos": 745, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "WKTKMSSCSQDHRSLVLQND", "down_seq": "KHMSQNQAVKRGYNSVMNES", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "184937631", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M745", "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: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "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": "Q7Z570-1.781.781", "start_pos": 781, "end_pos": 781, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VMNESERFYRKRRQHSHSYS", "down_seq": "DESLNRQNHLPEEFLRPPST", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "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": "2", "chr_pos": "184937738", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S781", "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": "snv", "site_list": [ { "start_pos": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q7Z570-1.770.770", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z570-1.812.812", "start_pos": 812, "end_pos": 812, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PEEFLRPPSTSVAPCKPKKK", "down_seq": "RRKRGRFHPGFETLELKENT", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "2", "chr_pos": "184937830", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R812", "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: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: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": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q7Z570-1.814.814", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z570-1.814.814", "start_pos": 814, "end_pos": 814, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EFLRPPSTSVAPCKPKKKRR", "down_seq": "KRGRFHPGFETLELKENTDY", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "6", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "184937837", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R814", "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: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": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q7Z570-1.812.812", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q7Z570-1.851.851", "start_pos": 851, "end_pos": 851, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "NTDYPVKDNSSLNPLDRLIS", "down_seq": "DKKEKMKPQEVAKIERNSEQ", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "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": "2", "chr_pos": "184937947", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E851", "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: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": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "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": "Q7Z570-1.911.911", "start_pos": 911, "end_pos": 911, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TNGETEHLEMETTSGELSDV", "down_seq": "NDPTTSVCVASAPTKEAIDN", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "184938128", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S911", "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: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "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": "Q7Z570-1.974.974", "start_pos": 974, "end_pos": 974, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q7Z570", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "VPNIERNFRQSQPKSYLCHY", "down_seq": "LAEALPQGKMNETPTEWLRY", "snv": [ { "evidence": [ { "id": "Q7Z570", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q7Z570" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "2", "chr_pos": "184938316", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E974", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "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": "Q7Z570-1.639.639", "start_pos": 639, "end_pos": 639, "uniprot_canonical_ac": "Q7Z570-1", "length": 1209, "uniprot_id": "Z804A_HUMAN", "protein_name": "Zinc finger protein 804A", "refseq_ac": "NP_919226", "refseq_name": "zinc finger protein 804A", "gene_name": "ZNF804A", "gene_names_uniprotkb": "ZNF804A; C2orf10", "gene_names_refseq": "C2orf10; ZNF804A", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q7Z570", "url": "https://www.uniprot.org/uniprotkb/Q7Z570" } ], "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": "Q7Z570", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z570" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q7Z570", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z570", "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": "KMEAENSYTENAGKYLLEPI", "down_seq": "EKQYLAAEQLLDSHQLLDKR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q7Z570", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q7Z570" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser639" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "770", "end_pos": "770" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "108", "end_pos": "108" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "150", "end_pos": "150" }, { "start_pos": "189", "end_pos": "189" }, { "start_pos": "224", "end_pos": "224" }, { "start_pos": "357", "end_pos": "357" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "556", "end_pos": "556" }, { "start_pos": "575", "end_pos": "575" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "745", "end_pos": "745" }, { "start_pos": "781", "end_pos": "781" }, { "start_pos": "812", "end_pos": "812" }, { "start_pos": "814", "end_pos": "814" }, { "start_pos": "851", "end_pos": "851" }, { "start_pos": "911", "end_pos": "911" }, { "start_pos": "974", "end_pos": "974" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "639", "end_pos": "639" } ] } ], "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": "Q9Y2G7-1.131.131", "start_pos": 131, "end_pos": 131, "uniprot_canonical_ac": "Q9Y2G7-1", "length": 519, "uniprot_id": "ZFP30_HUMAN", "protein_name": "Zinc finger protein 30 homolog", "refseq_ac": "NP_001307595", "refseq_name": "zinc finger protein 30 homolog isoform 1", "gene_name": "ZFP30", "gene_names_uniprotkb": "ZFP30; KIAA0961; ZNF745", "gene_names_refseq": "ZFP30; ZNF745", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2G7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q9Y2G7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2G7" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y2G7", "url": "https://oglcnac.org/atlas/detail/Q9Y2G7" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] } ], "crossref": [ { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y2G7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2G7", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "Q9Y2G7", "url": "https://oglcnac.org/atlas/detail/Q9Y2G7", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q9Y2G7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2147256534", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147256534", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2147256534", "url": "https://www.ensembl.org/id/rs2147256534", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SCGLEEQESPHEVCFRQVTK", "down_seq": "TSEKMPTYRKLTSLPLYQKS", "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": "Thr131", "evidence": [ { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "Q9Y2G7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2G7" }, { "id": "Q9Y2G7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Y2G7" } ] } ], "snv": [ { "evidence": [ { "id": "Q9Y2G7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7" } ], "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 (TTS->NTS); o-glyco-site-loss (T->N).", "chr_id": "19", "chr_pos": "37636149", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T131", "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": "rs2147256534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2147256534" }, { "id": "rs2147256534", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2147256534" } ], "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": "19", "chr_pos": "37636149", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T131", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "514", "end_pos": "514" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9Y2G7-1.133.133", "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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y2G7-1.133.133", "start_pos": 133, "end_pos": 133, "uniprot_canonical_ac": "Q9Y2G7-1", "length": 519, "uniprot_id": "ZFP30_HUMAN", "protein_name": "Zinc finger protein 30 homolog", "refseq_ac": "NP_001307595", "refseq_name": "zinc finger protein 30 homolog isoform 1", "gene_name": "ZFP30", "gene_names_uniprotkb": "ZFP30; KIAA0961; ZNF745", "gene_names_refseq": "ZFP30; ZNF745", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2G7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q9Y2G7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2G7" }, { "database": "O-GlcNAc Atlas", "id": "Q9Y2G7", "url": "https://oglcnac.org/atlas/detail/Q9Y2G7" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] } ], "crossref": [ { "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9Y2G7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2G7", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "Q9Y2G7", "url": "https://oglcnac.org/atlas/detail/Q9Y2G7", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GLEEQESPHEVCFRQVTKTT", "down_seq": "EKMPTYRKLTSLPLYQKSHN", "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": "Ser133", "evidence": [ { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "Q9Y2G7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9Y2G7" }, { "id": "Q9Y2G7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9Y2G7" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "514", "end_pos": "514" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9Y2G7-1.131.131", "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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9Y2G7-1.178.178", "start_pos": 178, "end_pos": 178, "uniprot_canonical_ac": "Q9Y2G7-1", "length": 519, "uniprot_id": "ZFP30_HUMAN", "protein_name": "Zinc finger protein 30 homolog", "refseq_ac": "NP_001307595", "refseq_name": "zinc finger protein 30 homolog isoform 1", "gene_name": "ZFP30", "gene_names_uniprotkb": "ZFP30; KIAA0961; ZNF745", "gene_names_refseq": "ZFP30; ZNF745", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2G7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2G7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YECGECGKAFRVRQQLTFHQ", "down_seq": "IHTGEKPYECKECGKAFRQC", "snv": [ { "evidence": [ { "id": "Q9Y2G7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "37636008", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R178", "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: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": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "514", "end_pos": "514" } ] } ], "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": "Q9Y2G7-1.200.200", "start_pos": 200, "end_pos": 200, "uniprot_canonical_ac": "Q9Y2G7-1", "length": 519, "uniprot_id": "ZFP30_HUMAN", "protein_name": "Zinc finger protein 30 homolog", "refseq_ac": "NP_001307595", "refseq_name": "zinc finger protein 30 homolog isoform 1", "gene_name": "ZFP30", "gene_names_uniprotkb": "ZFP30; KIAA0961; ZNF745", "gene_names_refseq": "ZFP30; ZNF745", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2G7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2G7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "HTGEKPYECKECGKAFRQCA", "down_seq": "LSRHQRIHTSDKLYECKKCG", "snv": [ { "evidence": [ { "id": "Q9Y2G7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HLS->NLS).", "chr_id": "19", "chr_pos": "37635943", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H200", "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": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "514", "end_pos": "514" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9Y2G7-1.203.203", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2G7-1.203.203", "start_pos": 203, "end_pos": 203, "uniprot_canonical_ac": "Q9Y2G7-1", "length": 519, "uniprot_id": "ZFP30_HUMAN", "protein_name": "Zinc finger protein 30 homolog", "refseq_ac": "NP_001307595", "refseq_name": "zinc finger protein 30 homolog isoform 1", "gene_name": "ZFP30", "gene_names_uniprotkb": "ZFP30; KIAA0961; ZNF745", "gene_names_refseq": "ZFP30; ZNF745", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2G7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2G7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EKPYECKECGKAFRQCAHLS", "down_seq": "HQRIHTSDKLYECKKCGKIF", "snv": [ { "evidence": [ { "id": "Q9Y2G7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "37635933", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R203", "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": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "514", "end_pos": "514" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9Y2G7-1.200.200", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9Y2G7-1.222.222", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2G7-1.222.222", "start_pos": 222, "end_pos": 222, "uniprot_canonical_ac": "Q9Y2G7-1", "length": 519, "uniprot_id": "ZFP30_HUMAN", "protein_name": "Zinc finger protein 30 homolog", "refseq_ac": "NP_001307595", "refseq_name": "zinc finger protein 30 homolog isoform 1", "gene_name": "ZFP30", "gene_names_uniprotkb": "ZFP30; KIAA0961; ZNF745", "gene_names_refseq": "ZFP30; ZNF745", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2G7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2044314235", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2044314235", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2044314235", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2044314235#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "SRHQRIHTSDKLYECKKCGK", "down_seq": "FTCGSDLRVHQRIHIGEKPY", "snv": [ { "evidence": [ { "id": "rs2044314235", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2044314235" }, { "id": "rs2044314235", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2044314235#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": "19", "chr_pos": "37635876", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I222", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "514", "end_pos": "514" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9Y2G7-1.203.203", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9Y2G7-1.230.230", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2G7-1.230.230", "start_pos": 230, "end_pos": 230, "uniprot_canonical_ac": "Q9Y2G7-1", "length": 519, "uniprot_id": "ZFP30_HUMAN", "protein_name": "Zinc finger protein 30 homolog", "refseq_ac": "NP_001307595", "refseq_name": "zinc finger protein 30 homolog isoform 1", "gene_name": "ZFP30", "gene_names_uniprotkb": "ZFP30; KIAA0961; ZNF745", "gene_names_refseq": "ZFP30; ZNF745", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2G7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2G7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SDKLYECKKCGKIFTCGSDL", "down_seq": "VHQRIHIGEKPYECKECGKA", "snv": [ { "evidence": [ { "id": "Q9Y2G7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7" } ], "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": "37635853", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R230", "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": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "514", "end_pos": "514" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9Y2G7-1.222.222", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2G7-1.26.26", "start_pos": 26, "end_pos": 26, "uniprot_canonical_ac": "Q9Y2G7-1", "length": 519, "uniprot_id": "ZFP30_HUMAN", "protein_name": "Zinc finger protein 30 homolog", "refseq_ac": "NP_001307595", "refseq_name": "zinc finger protein 30 homolog isoform 1", "gene_name": "ZFP30", "gene_names_uniprotkb": "ZFP30; KIAA0961; ZNF745", "gene_names_refseq": "ZFP30; ZNF745", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2G7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2G7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "VMFRDVAVDFSQEEWECLNS", "down_seq": "QRNLYRDVILENYSNLVSLA", "snv": [ { "evidence": [ { "id": "Q9Y2G7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NSY->NSC).", "chr_id": "19", "chr_pos": "37644669", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y26", "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": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "514", "end_pos": "514" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q9Y2G7-1.31.31", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2G7-1.287.287", "start_pos": 287, "end_pos": 287, "uniprot_canonical_ac": "Q9Y2G7-1", "length": 519, "uniprot_id": "ZFP30_HUMAN", "protein_name": "Zinc finger protein 30 homolog", "refseq_ac": "NP_001307595", "refseq_name": "zinc finger protein 30 homolog isoform 1", "gene_name": "ZFP30", "gene_names_uniprotkb": "ZFP30; KIAA0961; ZNF745", "gene_names_refseq": "ZFP30; ZNF745", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2G7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2G7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EKPYECKECGKAFRQYAHLT", "down_seq": "HQRLNIAEKCYECKECGQAF", "snv": [ { "evidence": [ { "id": "Q9Y2G7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "37635681", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R287", "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: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "514", "end_pos": "514" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9Y2G7-1.294.294", "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": "Q9Y2G7-1.294.294", "start_pos": 294, "end_pos": 294, "uniprot_canonical_ac": "Q9Y2G7-1", "length": 519, "uniprot_id": "ZFP30_HUMAN", "protein_name": "Zinc finger protein 30 homolog", "refseq_ac": "NP_001307595", "refseq_name": "zinc finger protein 30 homolog isoform 1", "gene_name": "ZFP30", "gene_names_uniprotkb": "ZFP30; KIAA0961; ZNF745", "gene_names_refseq": "ZFP30; ZNF745", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2G7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2044308993", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2044308993", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2044308993", "url": "https://www.ensembl.org/id/rs2044308993", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ECGKAFRQYAHLTRHQRLNI", "down_seq": "EKCYECKECGQAFLCSTGLR", "snv": [ { "evidence": [ { "id": "rs2044308993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2044308993" }, { "id": "rs2044308993", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2044308993" } ], "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": "19", "chr_pos": "37635661", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A294", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "514", "end_pos": "514" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9Y2G7-1.287.287", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2G7-1.31.31", "start_pos": 31, "end_pos": 31, "uniprot_canonical_ac": "Q9Y2G7-1", "length": 519, "uniprot_id": "ZFP30_HUMAN", "protein_name": "Zinc finger protein 30 homolog", "refseq_ac": "NP_001307595", "refseq_name": "zinc finger protein 30 homolog isoform 1", "gene_name": "ZFP30", "gene_names_uniprotkb": "ZFP30; KIAA0961; ZNF745", "gene_names_refseq": "ZFP30; ZNF745", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2G7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1427703965", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1427703965", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1427703965", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1427703965#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1427703965", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1427703965", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "VAVDFSQEEWECLNSYQRNL", "down_seq": "RDVILENYSNLVSLAGCSIS", "snv": [ { "evidence": [ { "id": "rs1427703965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1427703965" }, { "id": "rs1427703965", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1427703965#frequency_tab" }, { "id": "rs1427703965", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1427703965" } ], "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 (NLY->NLC).", "chr_id": "19", "chr_pos": "37644654", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y31", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "514", "end_pos": "514" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9Y2G7-1.26.26", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2G7-1.347.347", "start_pos": 347, "end_pos": 347, "uniprot_canonical_ac": "Q9Y2G7-1", "length": 519, "uniprot_id": "ZFP30_HUMAN", "protein_name": "Zinc finger protein 30 homolog", "refseq_ac": "NP_001307595", "refseq_name": "zinc finger protein 30 homolog isoform 1", "gene_name": "ZFP30", "gene_names_uniprotkb": "ZFP30; KIAA0961; ZNF745", "gene_names_refseq": "ZFP30; ZNF745", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2G7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2G7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "ECKECGKAFRVRQQLTLHQR", "down_seq": "HTGEKPYDCKECGKTFSRGY", "snv": [ { "evidence": [ { "id": "Q9Y2G7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (IHT->NHT).", "chr_id": "19", "chr_pos": "37635501", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "I347", "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": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "514", "end_pos": "514" } ] } ], "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": "Q9Y2G7-1.393.393", "start_pos": 393, "end_pos": 393, "uniprot_canonical_ac": "Q9Y2G7-1", "length": 519, "uniprot_id": "ZFP30_HUMAN", "protein_name": "Zinc finger protein 30 homolog", "refseq_ac": "NP_001307595", "refseq_name": "zinc finger protein 30 homolog isoform 1", "gene_name": "ZFP30", "gene_names_uniprotkb": "ZFP30; KIAA0961; ZNF745", "gene_names_refseq": "ZFP30; ZNF745", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2G7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2G7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QRIHTGEKPYECKECQKFFR", "down_seq": "YSELISHQGIHIGEKPYECK", "snv": [ { "evidence": [ { "id": "Q9Y2G7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7" } ], "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": "19", "chr_pos": "37635363", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R393", "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: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": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "514", "end_pos": "514" } ] } ], "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": "Q9Y2G7-1.486.486", "start_pos": 486, "end_pos": 486, "uniprot_canonical_ac": "Q9Y2G7-1", "length": 519, "uniprot_id": "ZFP30_HUMAN", "protein_name": "Zinc finger protein 30 homolog", "refseq_ac": "NP_001307595", "refseq_name": "zinc finger protein 30 homolog isoform 1", "gene_name": "ZFP30", "gene_names_uniprotkb": "ZFP30; KIAA0961; ZNF745", "gene_names_refseq": "ZFP30; ZNF745", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2G7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2G7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YDCKECGKAFRLHSSLIQHQ", "down_seq": "IHSGEKPYKCKECKKAFRQH", "snv": [ { "evidence": [ { "id": "Q9Y2G7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "37635084", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R486", "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": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "514", "end_pos": "514" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q9Y2G7-1.497.497", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2G7-1.497.497", "start_pos": 497, "end_pos": 497, "uniprot_canonical_ac": "Q9Y2G7-1", "length": 519, "uniprot_id": "ZFP30_HUMAN", "protein_name": "Zinc finger protein 30 homolog", "refseq_ac": "NP_001307595", "refseq_name": "zinc finger protein 30 homolog isoform 1", "gene_name": "ZFP30", "gene_names_uniprotkb": "ZFP30; KIAA0961; ZNF745", "gene_names_refseq": "ZFP30; ZNF745", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2G7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2G7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LHSSLIQHQRIHSGEKPYKC", "down_seq": "ECKKAFRQHSHLTYHQRIHN", "snv": [ { "evidence": [ { "id": "Q9Y2G7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KEC->NEC).", "chr_id": "19", "chr_pos": "37635050", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K497", "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": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "514", "end_pos": "514" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9Y2G7-1.486.486", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9Y2G7-1.514.514", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9Y2G7-1.514.514", "start_pos": 514, "end_pos": 514, "uniprot_canonical_ac": "Q9Y2G7-1", "length": 519, "uniprot_id": "ZFP30_HUMAN", "protein_name": "Zinc finger protein 30 homolog", "refseq_ac": "NP_001307595", "refseq_name": "zinc finger protein 30 homolog isoform 1", "gene_name": "ZFP30", "gene_names_uniprotkb": "ZFP30; KIAA0961; ZNF745", "gene_names_refseq": "ZFP30; ZNF745", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y2G7", "url": "https://www.uniprot.org/uniprotkb/Q9Y2G7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9Y2G7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YKCKECKKAFRQHSHLTYHQ", "down_seq": "IHNVT", "snv": [ { "evidence": [ { "id": "Q9Y2G7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y2G7" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "37635000", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R514", "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": "glycosylation", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "133", "end_pos": "133" } ] }, { "type": "snv", "site_list": [ { "start_pos": "131", "end_pos": "131" }, { "start_pos": "178", "end_pos": "178" }, { "start_pos": "200", "end_pos": "200" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "230", "end_pos": "230" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "347", "end_pos": "347" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "486", "end_pos": "486" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "514", "end_pos": "514" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9Y2G7-1.497.497", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8TC21-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q8TC21-1", "length": 504, "uniprot_id": "ZN596_HUMAN", "protein_name": "Zinc finger protein 596", "refseq_ac": "NP_001035880", "refseq_name": "zinc finger protein 596 isoform 1", "gene_name": "ZNF596", "gene_names_uniprotkb": "ZNF596", "gene_names_refseq": "ZNF596", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TC21", "url": "https://www.uniprot.org/uniprotkb/Q8TC21" } ], "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": "Q8TC21", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TC21" } ], "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": "Q8TC21", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TC21", "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": "Q8TC21", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8TC21" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "198", "end_pos": "198" }, { "start_pos": "212", "end_pos": "212" } ] } ], "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": "Q8TC21-1.198.198", "start_pos": 198, "end_pos": 198, "uniprot_canonical_ac": "Q8TC21-1", "length": 504, "uniprot_id": "ZN596_HUMAN", "protein_name": "Zinc finger protein 596", "refseq_ac": "NP_001035880", "refseq_name": "zinc finger protein 596 isoform 1", "gene_name": "ZNF596", "gene_names_uniprotkb": "ZNF596", "gene_names_refseq": "ZNF596", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TC21", "url": "https://www.uniprot.org/uniprotkb/Q8TC21" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TC21", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TC21", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "QNSALRPHSVTHTREITLEC", "down_seq": "VCGKTFSKNSNLRRHEMIHT", "snv": [ { "evidence": [ { "id": "Q8TC21", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TC21" } ], "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": "8", "chr_pos": "245439", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R198", "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": "snv", "site_list": [ { "start_pos": "198", "end_pos": "198" }, { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q8TC21-1.212.212", "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": "Q8TC21-1.212.212", "start_pos": 212, "end_pos": 212, "uniprot_canonical_ac": "Q8TC21-1", "length": 504, "uniprot_id": "ZN596_HUMAN", "protein_name": "Zinc finger protein 596", "refseq_ac": "NP_001035880", "refseq_name": "zinc finger protein 596 isoform 1", "gene_name": "ZNF596", "gene_names_uniprotkb": "ZNF596", "gene_names_refseq": "ZNF596", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8TC21", "url": "https://www.uniprot.org/uniprotkb/Q8TC21" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8TC21", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TC21", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EITLECRVCGKTFSKNSNLR", "down_seq": "HEMIHTGEKPHGCHLCGKAF", "snv": [ { "evidence": [ { "id": "Q8TC21", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8TC21" } ], "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": "8", "chr_pos": "245481", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R212", "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": "198", "end_pos": "198" }, { "start_pos": "212", "end_pos": "212" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8TC21-1.198.198", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P51522-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "P51522-1", "length": 516, "uniprot_id": "ZNF83_HUMAN", "protein_name": "Zinc finger protein 83", "refseq_ac": "NP_001099019", "refseq_name": "zinc finger protein 83", "gene_name": "ZNF83", "gene_names_uniprotkb": "ZNF83; ZNF816B", "gene_names_refseq": "HPF1; ZNF816B; ZNF83", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51522", "url": "https://www.uniprot.org/uniprotkb/P51522" } ], "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": "P51522", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P51522" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "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": "P51522", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P51522" } ], "reference": [ { "type": "PubMed", "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887" } ] } ], "crossref": [ { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "P51522", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P51522", "database": "O-GlcNAc Database", "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": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "P51522", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P51522" }, { "id": "39894887", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39894887" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "58", "end_pos": "58" } ] } ], "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P51522-1.234.234", "start_pos": 234, "end_pos": 234, "uniprot_canonical_ac": "P51522-1", "length": 516, "uniprot_id": "ZNF83_HUMAN", "protein_name": "Zinc finger protein 83", "refseq_ac": "NP_001099019", "refseq_name": "zinc finger protein 83", "gene_name": "ZNF83", "gene_names_uniprotkb": "ZNF83; ZNF816B", "gene_names_refseq": "HPF1; ZNF816B; ZNF83", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51522", "url": "https://www.uniprot.org/uniprotkb/P51522" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P51522", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P51522", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "FHQISHLAQHRTIHTGEKPY", "down_seq": "CNKCGKVFSRNSYLVQHLII", "snv": [ { "evidence": [ { "id": "P51522", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P51522" } ], "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": "52613865", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E234", "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: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": "234", "end_pos": "234" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "58", "end_pos": "58" } ] } ], "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": "P51522-1.271.271", "start_pos": 271, "end_pos": 271, "uniprot_canonical_ac": "P51522-1", "length": 516, "uniprot_id": "ZNF83_HUMAN", "protein_name": "Zinc finger protein 83", "refseq_ac": "NP_001099019", "refseq_name": "zinc finger protein 83", "gene_name": "ZNF83", "gene_names_uniprotkb": "ZNF83; ZNF816B", "gene_names_refseq": "HPF1; ZNF816B; ZNF83", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51522", "url": "https://www.uniprot.org/uniprotkb/P51522" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P51522", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P51522", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "HLIIHTGEKPYRCNVCGKVF", "down_seq": "HISHLAQHQRIHTGEKPYKC", "snv": [ { "evidence": [ { "id": "P51522", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P51522" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "52613754", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H271", "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: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": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "58", "end_pos": "58" } ] } ], "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": "P51522-1.293.293", "start_pos": 293, "end_pos": 293, "uniprot_canonical_ac": "P51522-1", "length": 516, "uniprot_id": "ZNF83_HUMAN", "protein_name": "Zinc finger protein 83", "refseq_ac": "NP_001099019", "refseq_name": "zinc finger protein 83", "gene_name": "ZNF83", "gene_names_uniprotkb": "ZNF83; ZNF816B", "gene_names_refseq": "HPF1; ZNF816B; ZNF83", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51522", "url": "https://www.uniprot.org/uniprotkb/P51522" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P51522", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P51522", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "ISHLAQHQRIHTGEKPYKCN", "down_seq": "CGKVFSHKSSLVNHWRIHTG", "snv": [ { "evidence": [ { "id": "P51522", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P51522" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "16", "frequency": "0.8", "sequence_org": "E", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: patient count (16/1906).", "chr_id": "19", "chr_pos": "52613687", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E293", "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": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "58", "end_pos": "58" } ] } ], "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": "P51522-1.318.318", "start_pos": 318, "end_pos": 318, "uniprot_canonical_ac": "P51522-1", "length": 516, "uniprot_id": "ZNF83_HUMAN", "protein_name": "Zinc finger protein 83", "refseq_ac": "NP_001099019", "refseq_name": "zinc finger protein 83", "gene_name": "ZNF83", "gene_names_uniprotkb": "ZNF83; ZNF816B", "gene_names_refseq": "HPF1; ZNF816B; ZNF83", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51522", "url": "https://www.uniprot.org/uniprotkb/P51522" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P51522", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P51522", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "FSHKSSLVNHWRIHTGEKPY", "down_seq": "CNECGKVFSHKSSLVNHWRI", "snv": [ { "evidence": [ { "id": "P51522", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P51522" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "52613612", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K318", "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: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: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": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "58", "end_pos": "58" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "P51522-1.321.321", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P51522-1.321.321", "start_pos": 321, "end_pos": 321, "uniprot_canonical_ac": "P51522-1", "length": 516, "uniprot_id": "ZNF83_HUMAN", "protein_name": "Zinc finger protein 83", "refseq_ac": "NP_001099019", "refseq_name": "zinc finger protein 83", "gene_name": "ZNF83", "gene_names_uniprotkb": "ZNF83; ZNF816B", "gene_names_refseq": "HPF1; ZNF816B; ZNF83", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51522", "url": "https://www.uniprot.org/uniprotkb/P51522" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P51522", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P51522", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "KSSLVNHWRIHTGEKPYKCN", "down_seq": "CGKVFSHKSSLVNHWRIHTG", "snv": [ { "evidence": [ { "id": "P51522", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P51522" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "E", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "52613603", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E321", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "234", "end_pos": "234" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "58", "end_pos": "58" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "P51522-1.318.318", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "P51522-1.58.58", "start_pos": 58, "end_pos": 58, "uniprot_canonical_ac": "P51522-1", "length": 516, "uniprot_id": "ZNF83_HUMAN", "protein_name": "Zinc finger protein 83", "refseq_ac": "NP_001099019", "refseq_name": "zinc finger protein 83", "gene_name": "ZNF83", "gene_names_uniprotkb": "ZNF83; ZNF816B", "gene_names_refseq": "HPF1; ZNF816B; ZNF83", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51522", "url": "https://www.uniprot.org/uniprotkb/P51522" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P51522", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P51522", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YKYDHMEKSVNSSSLVSPPQ", "down_seq": "ISSTVKTHISHTYECNFVDS", "snv": [ { "evidence": [ { "id": "P51522", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P51522" } ], "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": "19", "chr_pos": "52614392", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R58", "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: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": "234", "end_pos": "234" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "293", "end_pos": "293" }, { "start_pos": "318", "end_pos": "318" }, { "start_pos": "321", "end_pos": "321" }, { "start_pos": "58", "end_pos": "58" } ] } ], "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": "Q03923-1.289.289", "start_pos": 289, "end_pos": 289, "uniprot_canonical_ac": "Q03923-1", "length": 595, "uniprot_id": "ZNF85_HUMAN", "protein_name": "Zinc finger protein 85", "refseq_ac": "NP_001243101", "refseq_name": "zinc finger protein 85 isoform b", "gene_name": "ZNF85", "gene_names_uniprotkb": "ZNF85", "gene_names_refseq": "HPF4; HTF1; ZNF85", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03923", "url": "https://www.uniprot.org/uniprotkb/Q03923" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03923", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03923", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RFSTLTTHKIIHTGEKPYKC", "down_seq": "ECGKAFNRSSTLTTHRKIHT", "snv": [ { "evidence": [ { "id": "Q03923", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03923" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "20949379", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K289", "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: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": "289", "end_pos": "289" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "66", "end_pos": "66" } ] } ], "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": "Q03923-1.346.346", "start_pos": 346, "end_pos": 346, "uniprot_canonical_ac": "Q03923-1", "length": 595, "uniprot_id": "ZNF85_HUMAN", "protein_name": "Zinc finger protein 85", "refseq_ac": "NP_001243101", "refseq_name": "zinc finger protein 85 isoform b", "gene_name": "ZNF85", "gene_names_uniprotkb": "ZNF85", "gene_names_refseq": "HPF4; HTF1; ZNF85", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03923", "url": "https://www.uniprot.org/uniprotkb/Q03923" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03923", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03923", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SSNLTTHKIIHTGEKPYKCK", "down_seq": "CGKAFNQSAHLTTHEVIHTG", "snv": [ { "evidence": [ { "id": "Q03923", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03923" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "6", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "20949550", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K346", "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: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": "289", "end_pos": "289" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "66", "end_pos": "66" } ] } ], "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": "Q03923-1.447.447", "start_pos": 447, "end_pos": 447, "uniprot_canonical_ac": "Q03923-1", "length": 595, "uniprot_id": "ZNF85_HUMAN", "protein_name": "Zinc finger protein 85", "refseq_ac": "NP_001243101", "refseq_name": "zinc finger protein 85 isoform b", "gene_name": "ZNF85", "gene_names_uniprotkb": "ZNF85", "gene_names_refseq": "HPF4; HTF1; ZNF85", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03923", "url": "https://www.uniprot.org/uniprotkb/Q03923" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03923", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03923", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "KCKECEKAFNQSSKLTEHKK", "down_seq": "HTGEKPYECEKCGKAFNQSS", "snv": [ { "evidence": [ { "id": "Q03923", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03923" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "20949855", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "I447", "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": "289", "end_pos": "289" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "66", "end_pos": "66" } ] } ], "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": "Q03923-1.66.66", "start_pos": 66, "end_pos": 66, "uniprot_canonical_ac": "Q03923-1", "length": 595, "uniprot_id": "ZNF85_HUMAN", "protein_name": "Zinc finger protein 85", "refseq_ac": "NP_001243101", "refseq_name": "zinc finger protein 85 isoform b", "gene_name": "ZNF85", "gene_names_uniprotkb": "ZNF85", "gene_names_refseq": "HPF4; HTF1; ZNF85", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03923", "url": "https://www.uniprot.org/uniprotkb/Q03923" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03923", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03923", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TVSKPDLITCLEQGKEAWSM", "down_seq": "RHEIMVAKPTVMCSHFAQDL", "snv": [ { "evidence": [ { "id": "Q03923", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03923" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "20935015", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K66", "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": "snv", "site_list": [ { "start_pos": "289", "end_pos": "289" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "66", "end_pos": "66" } ] } ], "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": "Q9BUG6-1.25.25", "start_pos": 25, "end_pos": 25, "uniprot_canonical_ac": "Q9BUG6-1", "length": 496, "uniprot_id": "ZSA5A_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 5A", "refseq_ac": "NP_001308993", "refseq_name": "zinc finger and SCAN domain-containing protein 5A isoform b", "gene_name": "ZSCAN5A", "gene_names_uniprotkb": "ZSCAN5A; ZNF495; ZSCAN5", "gene_names_refseq": "ZNF495; ZSCAN5A; ZSCAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUG6", "url": "https://www.uniprot.org/uniprotkb/Q9BUG6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q9BUG6", "url": "https://oglcnac.org/atlas/detail/Q9BUG6" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] } ], "crossref": [ { "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9BUG6", "url": "https://oglcnac.org/atlas/detail/Q9BUG6", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q9BUG6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUG6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CTSSWSLGESCNRPGLELPR", "down_seq": "MASSETQLGNHDVDPEISHV", "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": "Ser25", "evidence": [ { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" }, { "id": "Q9BUG6", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9BUG6" } ] } ], "snv": [ { "evidence": [ { "id": "Q9BUG6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUG6" } ], "glycoeffect": [ "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: o-glyco-site-loss (S->Y).", "chr_id": "19", "chr_pos": "56224973", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S25", "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": "25", "end_pos": "25" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "308", "end_pos": "308" }, { "start_pos": "422", "end_pos": "422" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q9BUG6-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9BUG6-1.31.31", "categories": [ "glycosylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9BUG6-1.43.43", "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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BUG6-1.31.31", "start_pos": 31, "end_pos": 31, "uniprot_canonical_ac": "Q9BUG6-1", "length": 496, "uniprot_id": "ZSA5A_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 5A", "refseq_ac": "NP_001308993", "refseq_name": "zinc finger and SCAN domain-containing protein 5A isoform b", "gene_name": "ZSCAN5A", "gene_names_uniprotkb": "ZSCAN5A; ZNF495; ZSCAN5", "gene_names_refseq": "ZNF495; ZSCAN5A; ZSCAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUG6", "url": "https://www.uniprot.org/uniprotkb/Q9BUG6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q9BUG6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BUG6" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "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": "Q9BUG6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BUG6" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "crossref": [ { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9BUG6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BUG6", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LGESCNRPGLELPRSMASSE", "down_seq": "QLGNHDVDPEISHVNFRMFS", "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": "Thr31", "evidence": [ { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "Q9BUG6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BUG6" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "25", "end_pos": "25" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "308", "end_pos": "308" }, { "start_pos": "422", "end_pos": "422" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9BUG6-1.18.18", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9BUG6-1.25.25", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9BUG6-1.43.43", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9BUG6-1.51.51", "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": "Q9BUG6-1.43.43", "start_pos": 43, "end_pos": 43, "uniprot_canonical_ac": "Q9BUG6-1", "length": 496, "uniprot_id": "ZSA5A_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 5A", "refseq_ac": "NP_001308993", "refseq_name": "zinc finger and SCAN domain-containing protein 5A isoform b", "gene_name": "ZSCAN5A", "gene_names_uniprotkb": "ZSCAN5A; ZNF495; ZSCAN5", "gene_names_refseq": "ZNF495; ZSCAN5A; ZSCAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUG6", "url": "https://www.uniprot.org/uniprotkb/Q9BUG6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q9BUG6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BUG6" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "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": "Q9BUG6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BUG6" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "crossref": [ { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9BUG6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BUG6", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs376633535", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376633535", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs376633535", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376633535", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs376633535", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376633535#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs376633535", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376633535", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs376633535", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376633535", "database": "COSMIC", "categories": [ "Other" ] }, { "id": "Q9BUG6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUG6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PRSMASSETQLGNHDVDPEI", "down_seq": "HVNFRMFSCPKESDPIQALR", "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": "Ser43", "evidence": [ { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "Q9BUG6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BUG6" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "snv": [ { "evidence": [ { "id": "rs376633535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376633535" }, { "id": "rs376633535", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376633535" }, { "id": "rs376633535", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376633535#frequency_tab" }, { "id": "rs376633535", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376633535" }, { "id": "rs376633535", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs376633535" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->C).", "chr_id": "19", "chr_pos": "56224919", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S43", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "Q9BUG6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUG6" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "19", "chr_pos": "56224919", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S43", "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": "25", "end_pos": "25" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "308", "end_pos": "308" }, { "start_pos": "422", "end_pos": "422" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9BUG6-1.25.25", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9BUG6-1.31.31", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9BUG6-1.51.51", "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BUG6-1.51.51", "start_pos": 51, "end_pos": 51, "uniprot_canonical_ac": "Q9BUG6-1", "length": 496, "uniprot_id": "ZSA5A_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 5A", "refseq_ac": "NP_001308993", "refseq_name": "zinc finger and SCAN domain-containing protein 5A isoform b", "gene_name": "ZSCAN5A", "gene_names_uniprotkb": "ZSCAN5A; ZNF495; ZSCAN5", "gene_names_refseq": "ZNF495; ZSCAN5A; ZSCAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUG6", "url": "https://www.uniprot.org/uniprotkb/Q9BUG6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q9BUG6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BUG6" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "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": "Q9BUG6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BUG6" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "crossref": [ { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9BUG6", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BUG6", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs2033751944", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2033751944", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2033751944", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2033751944#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2033751944", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2033751944", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs140787974", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140787974", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs140787974", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140787974#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs140787974", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140787974", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TQLGNHDVDPEISHVNFRMF", "down_seq": "CPKESDPIQALRKLTELCHL", "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": "Ser51", "evidence": [ { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "Q9BUG6", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9BUG6" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "snv": [ { "evidence": [ { "id": "rs2033751944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2033751944" }, { "id": "rs2033751944", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2033751944#frequency_tab" }, { "id": "rs2033751944", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2033751944" } ], "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": "19", "chr_pos": "56224896", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S51", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs140787974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140787974" }, { "id": "rs140787974", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs140787974#frequency_tab" }, { "id": "rs140787974", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140787974" } ], "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": "19", "chr_pos": "56224894", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S51", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "25", "end_pos": "25" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "308", "end_pos": "308" }, { "start_pos": "422", "end_pos": "422" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9BUG6-1.31.31", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9BUG6-1.43.43", "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9BUG6-1.120.120", "start_pos": 120, "end_pos": 120, "uniprot_canonical_ac": "Q9BUG6-1", "length": 496, "uniprot_id": "ZSA5A_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 5A", "refseq_ac": "NP_001308993", "refseq_name": "zinc finger and SCAN domain-containing protein 5A isoform b", "gene_name": "ZSCAN5A", "gene_names_uniprotkb": "ZSCAN5A; ZNF495; ZSCAN5", "gene_names_refseq": "ZNF495; ZSCAN5A; ZSCAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUG6", "url": "https://www.uniprot.org/uniprotkb/Q9BUG6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BUG6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUG6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LQVLVMMNGVQSCKDLEDLL", "down_seq": "NNRRPKKWSVVTFHGKEYIV", "snv": [ { "evidence": [ { "id": "Q9BUG6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUG6" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "56224689", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R120", "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" ] }, { "evidence": [ { "id": "Q9BUG6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUG6" } ], "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": "19", "chr_pos": "56224688", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R120", "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": "glycosylation", "site_list": [ { "start_pos": "25", "end_pos": "25" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "308", "end_pos": "308" }, { "start_pos": "422", "end_pos": "422" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q9BUG6-1.124.124", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q9BUG6-1.124.124", "start_pos": 124, "end_pos": 124, "uniprot_canonical_ac": "Q9BUG6-1", "length": 496, "uniprot_id": "ZSA5A_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 5A", "refseq_ac": "NP_001308993", "refseq_name": "zinc finger and SCAN domain-containing protein 5A isoform b", "gene_name": "ZSCAN5A", "gene_names_uniprotkb": "ZSCAN5A; ZNF495; ZSCAN5", "gene_names_refseq": "ZNF495; ZSCAN5A; ZSCAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUG6", "url": "https://www.uniprot.org/uniprotkb/Q9BUG6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775056079", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775056079", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775056079", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775056079", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775056079", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775056079", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VMMNGVQSCKDLEDLLRNNR", "down_seq": "PKKWSVVTFHGKEYIVQDSD", "snv": [ { "evidence": [ { "id": "rs775056079", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775056079" }, { "id": "rs775056079", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775056079" }, { "id": "rs775056079", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775056079" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRR->NRT).", "chr_id": "19", "chr_pos": "56224676", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R124", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "25", "end_pos": "25" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "308", "end_pos": "308" }, { "start_pos": "422", "end_pos": "422" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9BUG6-1.120.120", "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": "Q9BUG6-1.173.173", "start_pos": 173, "end_pos": 173, "uniprot_canonical_ac": "Q9BUG6-1", "length": 496, "uniprot_id": "ZSA5A_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 5A", "refseq_ac": "NP_001308993", "refseq_name": "zinc finger and SCAN domain-containing protein 5A isoform b", "gene_name": "ZSCAN5A", "gene_names_uniprotkb": "ZSCAN5A; ZNF495; ZSCAN5", "gene_names_refseq": "ZNF495; ZSCAN5A; ZSCAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUG6", "url": "https://www.uniprot.org/uniprotkb/Q9BUG6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BUG6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUG6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SVRDDLKDVSSQRASSVNQM", "down_seq": "PGEGQAHRELQILPRVPALS", "snv": [ { "evidence": [ { "id": "Q9BUG6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUG6" } ], "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": "19", "chr_pos": "56223702", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R173", "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": "glycosylation", "site_list": [ { "start_pos": "25", "end_pos": "25" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "308", "end_pos": "308" }, { "start_pos": "422", "end_pos": "422" } ] } ], "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": "Q9BUG6-1.18.18", "start_pos": 18, "end_pos": 18, "uniprot_canonical_ac": "Q9BUG6-1", "length": 496, "uniprot_id": "ZSA5A_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 5A", "refseq_ac": "NP_001308993", "refseq_name": "zinc finger and SCAN domain-containing protein 5A isoform b", "gene_name": "ZSCAN5A", "gene_names_uniprotkb": "ZSCAN5A; ZNF495; ZSCAN5", "gene_names_refseq": "ZNF495; ZSCAN5A; ZSCAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUG6", "url": "https://www.uniprot.org/uniprotkb/Q9BUG6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BUG6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUG6", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs112550672", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112550672", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs112550672", "url": "https://www.ncbi.nlm.nih.gov/snp/rs112550672#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs112550672", "url": "http://gnomad.broadinstitute.org/awesome?query=rs112550672", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs112550672", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs112550672", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "MAANCTSSWSLGESCNR", "down_seq": "GLELPRSMASSETQLGNHDV", "snv": [ { "evidence": [ { "id": "Q9BUG6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUG6" }, { "id": "rs112550672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs112550672" }, { "id": "rs112550672", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs112550672#frequency_tab" }, { "id": "rs112550672", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs112550672" }, { "id": "rs112550672", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs112550672" } ], "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 (NRP->NRS).", "chr_id": "19", "chr_pos": "56224995", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P18", "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": "25", "end_pos": "25" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "308", "end_pos": "308" }, { "start_pos": "422", "end_pos": "422" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q9BUG6-1.25.25", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9BUG6-1.31.31", "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": "Q9BUG6-1.207.207", "start_pos": 207, "end_pos": 207, "uniprot_canonical_ac": "Q9BUG6-1", "length": 496, "uniprot_id": "ZSA5A_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 5A", "refseq_ac": "NP_001308993", "refseq_name": "zinc finger and SCAN domain-containing protein 5A isoform b", "gene_name": "ZSCAN5A", "gene_names_uniprotkb": "ZSCAN5A; ZNF495; ZSCAN5", "gene_names_refseq": "ZNF495; ZSCAN5A; ZSCAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUG6", "url": "https://www.uniprot.org/uniprotkb/Q9BUG6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1381699289", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1381699289", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1381699289", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1381699289#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1381699289", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1381699289", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PRVPALSRRQGEDFLLHKSI", "down_seq": "VTGDPKSLRPKQTLEKDLKE", "snv": [ { "evidence": [ { "id": "rs1381699289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1381699289" }, { "id": "rs1381699289", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1381699289#frequency_tab" }, { "id": "rs1381699289", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1381699289" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "19", "chr_pos": "56222711", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D207", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "25", "end_pos": "25" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "308", "end_pos": "308" }, { "start_pos": "422", "end_pos": "422" } ] } ], "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": "Q9BUG6-1.273.273", "start_pos": 273, "end_pos": 273, "uniprot_canonical_ac": "Q9BUG6-1", "length": 496, "uniprot_id": "ZSA5A_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 5A", "refseq_ac": "NP_001308993", "refseq_name": "zinc finger and SCAN domain-containing protein 5A isoform b", "gene_name": "ZSCAN5A", "gene_names_uniprotkb": "ZSCAN5A; ZNF495; ZSCAN5", "gene_names_refseq": "ZNF495; ZSCAN5A; ZSCAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUG6", "url": "https://www.uniprot.org/uniprotkb/Q9BUG6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BUG6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUG6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KEGKDPPKIASVENVDADTP", "down_seq": "ACVVEREASTHSGNRGDALN", "snv": [ { "evidence": [ { "id": "Q9BUG6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUG6" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "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": "56222248", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S273", "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: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": "25", "end_pos": "25" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "308", "end_pos": "308" }, { "start_pos": "422", "end_pos": "422" } ] } ], "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": "Q9BUG6-1.333.333", "start_pos": 333, "end_pos": 333, "uniprot_canonical_ac": "Q9BUG6-1", "length": 496, "uniprot_id": "ZSA5A_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 5A", "refseq_ac": "NP_001308993", "refseq_name": "zinc finger and SCAN domain-containing protein 5A isoform b", "gene_name": "ZSCAN5A", "gene_names_uniprotkb": "ZSCAN5A; ZNF495; ZSCAN5", "gene_names_refseq": "ZNF495; ZSCAN5A; ZSCAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUG6", "url": "https://www.uniprot.org/uniprotkb/Q9BUG6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1214068737", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1214068737", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1214068737", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1214068737", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "QGEATPVGNRESPGQAGMNS", "down_seq": "HSPGPASPVSHPDGQEAKAL", "snv": [ { "evidence": [ { "id": "rs1214068737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1214068737" }, { "id": "rs1214068737", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1214068737" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSI->NST).", "chr_id": "19", "chr_pos": "56222068", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I333", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "25", "end_pos": "25" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "308", "end_pos": "308" }, { "start_pos": "422", "end_pos": "422" } ] } ], "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": "Q9BUG6-1.404.404", "start_pos": 404, "end_pos": 404, "uniprot_canonical_ac": "Q9BUG6-1", "length": 496, "uniprot_id": "ZSA5A_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 5A", "refseq_ac": "NP_001308993", "refseq_name": "zinc finger and SCAN domain-containing protein 5A isoform b", "gene_name": "ZSCAN5A", "gene_names_uniprotkb": "ZSCAN5A; ZNF495; ZSCAN5", "gene_names_refseq": "ZNF495; ZSCAN5A; ZSCAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUG6", "url": "https://www.uniprot.org/uniprotkb/Q9BUG6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9BUG6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUG6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FQCNLCGKRFMQLISLQFHQ", "down_seq": "THTGERPYTCDVCQKQFTQK", "snv": [ { "evidence": [ { "id": "Q9BUG6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9BUG6" } ], "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 (4).", "chr_id": "19", "chr_pos": "56221855", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R404", "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: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": "25", "end_pos": "25" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "308", "end_pos": "308" }, { "start_pos": "422", "end_pos": "422" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q9BUG6-1.412.412", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9BUG6-1.422.422", "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": "Q9BUG6-1.412.412", "start_pos": 412, "end_pos": 412, "uniprot_canonical_ac": "Q9BUG6-1", "length": 496, "uniprot_id": "ZSA5A_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 5A", "refseq_ac": "NP_001308993", "refseq_name": "zinc finger and SCAN domain-containing protein 5A isoform b", "gene_name": "ZSCAN5A", "gene_names_uniprotkb": "ZSCAN5A; ZNF495; ZSCAN5", "gene_names_refseq": "ZNF495; ZSCAN5A; ZSCAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUG6", "url": "https://www.uniprot.org/uniprotkb/Q9BUG6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs764960786", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764960786", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764960786", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764960786", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764960786", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764960786#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs764960786", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764960786", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "RFMQLISLQFHQRTHTGERP", "down_seq": "TCDVCQKQFTQKSYLKCHKR", "snv": [ { "evidence": [ { "id": "rs764960786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764960786" }, { "id": "rs764960786", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764960786" }, { "id": "rs764960786", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764960786#frequency_tab" }, { "id": "rs764960786", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764960786" } ], "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 (YTC->NTC).", "chr_id": "19", "chr_pos": "56221832", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y412", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "25", "end_pos": "25" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "308", "end_pos": "308" }, { "start_pos": "422", "end_pos": "422" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9BUG6-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9BUG6-1.422.422", "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": "Q9BUG6-1.308.308", "start_pos": 308, "end_pos": 308, "uniprot_canonical_ac": "Q9BUG6-1", "length": 496, "uniprot_id": "ZSA5A_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 5A", "refseq_ac": "NP_001308993", "refseq_name": "zinc finger and SCAN domain-containing protein 5A isoform b", "gene_name": "ZSCAN5A", "gene_names_uniprotkb": "ZSCAN5A; ZNF495; ZSCAN5", "gene_names_refseq": "ZNF495; ZSCAN5A; ZSCAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUG6", "url": "https://www.uniprot.org/uniprotkb/Q9BUG6" } ], "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": "Q9BUG6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUG6-1" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] } ], "crossref": [ { "id": "Q9BUG6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUG6", "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": "RGDALNLSSPKRSKPDASSI", "down_seq": "QEEPQGEATPVGNRESPGQA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9BUG6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUG6" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ], "site_lbl": "Ser308" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "25", "end_pos": "25" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "308", "end_pos": "308" }, { "start_pos": "422", "end_pos": "422" } ] } ], "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": "Q9BUG6-1.422.422", "start_pos": 422, "end_pos": 422, "uniprot_canonical_ac": "Q9BUG6-1", "length": 496, "uniprot_id": "ZSA5A_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 5A", "refseq_ac": "NP_001308993", "refseq_name": "zinc finger and SCAN domain-containing protein 5A isoform b", "gene_name": "ZSCAN5A", "gene_names_uniprotkb": "ZSCAN5A; ZNF495; ZSCAN5", "gene_names_refseq": "ZNF495; ZSCAN5A; ZSCAN5", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9BUG6", "url": "https://www.uniprot.org/uniprotkb/Q9BUG6" } ], "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": "Q9BUG6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUG6-1" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] } ], "crossref": [ { "id": "Q9BUG6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUG6", "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": "HQRTHTGERPYTCDVCQKQF", "down_seq": "QKSYLKCHKRSHTGEKPFEC", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9BUG6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9BUG6" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ], "site_lbl": "Thr422" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "25", "end_pos": "25" }, { "start_pos": "31", "end_pos": "31" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "snv", "site_list": [ { "start_pos": "120", "end_pos": "120" }, { "start_pos": "124", "end_pos": "124" }, { "start_pos": "173", "end_pos": "173" }, { "start_pos": "18", "end_pos": "18" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "25", "end_pos": "25" }, { "start_pos": "273", "end_pos": "273" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "404", "end_pos": "404" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "51", "end_pos": "51" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "308", "end_pos": "308" }, { "start_pos": "422", "end_pos": "422" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9BUG6-1.404.404", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q9BUG6-1.412.412", "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": "Q9H707-1.86.86", "start_pos": 86, "end_pos": 86, "uniprot_canonical_ac": "Q9H707-1", "length": 407, "uniprot_id": "ZN552_HUMAN", "protein_name": "Zinc finger protein 552", "refseq_ac": "NP_079038", "refseq_name": "zinc finger protein 552", "gene_name": "ZNF552", "gene_names_uniprotkb": "ZNF552", "gene_names_refseq": "ZNF552", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H707", "url": "https://www.uniprot.org/uniprotkb/Q9H707" } ], "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": "Q9H707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H707" }, { "database": "O-GlcNAc Atlas", "id": "Q9H707", "url": "https://oglcnac.org/atlas/detail/Q9H707" } ], "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": "Q9H707", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H707", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "Q9H707", "url": "https://oglcnac.org/atlas/detail/Q9H707", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1281020988", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1281020988", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1281020988", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1281020988#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SKQSIYIQRETQVRTPMAGV", "down_seq": "PKKAHPCEMCGPILGDILHV", "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": "Ser86", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q9H707", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H707" }, { "id": "Q9H707", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9H707" } ] } ], "snv": [ { "evidence": [ { "id": "rs1281020988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1281020988" }, { "id": "rs1281020988", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1281020988#frequency_tab" } ], "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": "19", "chr_pos": "57809008", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S86", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "86", "end_pos": "86" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "86", "end_pos": "86" } ] } ], "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "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": "Q9H707-1.157.157", "start_pos": 157, "end_pos": 157, "uniprot_canonical_ac": "Q9H707-1", "length": 407, "uniprot_id": "ZN552_HUMAN", "protein_name": "Zinc finger protein 552", "refseq_ac": "NP_079038", "refseq_name": "zinc finger protein 552", "gene_name": "ZNF552", "gene_names_uniprotkb": "ZNF552", "gene_names_refseq": "ZNF552", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H707", "url": "https://www.uniprot.org/uniprotkb/Q9H707" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H707", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H707", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "HQNEHIGEKPYRGSVEEALF", "down_seq": "KRCKLHVSGESSVFSESGKD", "snv": [ { "evidence": [ { "id": "Q9H707", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H707" } ], "glycoeffect": [], "subjects_tested": "9251", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "19", "chr_pos": "57808794", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A157", "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: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: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: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: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": "86", "end_pos": "86" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "86", "end_pos": "86" } ] } ], "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": "Q9H707-1.211.211", "start_pos": 211, "end_pos": 211, "uniprot_canonical_ac": "Q9H707-1", "length": 407, "uniprot_id": "ZN552_HUMAN", "protein_name": "Zinc finger protein 552", "refseq_ac": "NP_079038", "refseq_name": "zinc finger protein 552", "gene_name": "ZNF552", "gene_names_uniprotkb": "ZNF552", "gene_names_refseq": "ZNF552", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H707", "url": "https://www.uniprot.org/uniprotkb/Q9H707" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H707", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H707", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "HTGKSNSKTECVSLFHGGKS", "down_seq": "YSCGGCMKHFSTKDILSQHE", "snv": [ { "evidence": [ { "id": "Q9H707", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H707" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HYS->NYS).", "chr_id": "19", "chr_pos": "57808633", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H211", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "86", "end_pos": "86" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "86", "end_pos": "86" } ] } ], "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": "Q9H707-1.247.247", "start_pos": 247, "end_pos": 247, "uniprot_canonical_ac": "Q9H707-1", "length": 407, "uniprot_id": "ZN552_HUMAN", "protein_name": "Zinc finger protein 552", "refseq_ac": "NP_079038", "refseq_name": "zinc finger protein 552", "gene_name": "ZNF552", "gene_names_uniprotkb": "ZNF552", "gene_names_refseq": "ZNF552", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H707", "url": "https://www.uniprot.org/uniprotkb/Q9H707" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H707", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H707", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LSQHERLLPTEEPSVWCECG", "down_seq": "SSSKYDSFSNHQGVHTREKP", "snv": [ { "evidence": [ { "id": "Q9H707", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H707" } ], "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": "19", "chr_pos": "57808523", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K247", "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": "86", "end_pos": "86" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "86", "end_pos": "86" } ] } ], "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": "Q9H707-1.279.279", "start_pos": 279, "end_pos": 279, "uniprot_canonical_ac": "Q9H707-1", "length": 407, "uniprot_id": "ZN552_HUMAN", "protein_name": "Zinc finger protein 552", "refseq_ac": "NP_079038", "refseq_name": "zinc finger protein 552", "gene_name": "ZNF552", "gene_names_uniprotkb": "ZNF552", "gene_names_refseq": "ZNF552", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H707", "url": "https://www.uniprot.org/uniprotkb/Q9H707" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1946600443", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1946600443", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1946600443", "url": "https://www.ensembl.org/id/rs1946600443", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QGVHTREKPYTCGICGKLFN", "down_seq": "KSHLLVHQRIHTGEKPYECE", "snv": [ { "evidence": [ { "id": "rs1946600443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1946600443" }, { "id": "rs1946600443", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1946600443" } ], "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": "19", "chr_pos": "57808428", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S279", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "86", "end_pos": "86" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "86", "end_pos": "86" } ] } ], "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": "Q9H707-1.327.327", "start_pos": 327, "end_pos": 327, "uniprot_canonical_ac": "Q9H707-1", "length": 407, "uniprot_id": "ZN552_HUMAN", "protein_name": "Zinc finger protein 552", "refseq_ac": "NP_079038", "refseq_name": "zinc finger protein 552", "gene_name": "ZNF552", "gene_names_uniprotkb": "ZNF552", "gene_names_refseq": "ZNF552", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H707", "url": "https://www.uniprot.org/uniprotkb/Q9H707" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1453338538", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453338538", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1453338538", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1453338538#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HKYHLIAHQRVHTGERPYEC", "down_seq": "DCGKSFTHSSTFRVHKRVHT", "snv": [ { "evidence": [ { "id": "rs1453338538", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1453338538" }, { "id": "rs1453338538", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1453338538#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 (SDC->NDC).", "chr_id": "19", "chr_pos": "57808284", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S327", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "86", "end_pos": "86" } ] }, { "type": "snv", "site_list": [ { "start_pos": "157", "end_pos": "157" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "327", "end_pos": "327" }, { "start_pos": "86", "end_pos": "86" } ] } ], "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": "Q6P3V2-1.354.354", "start_pos": 354, "end_pos": 354, "uniprot_canonical_ac": "Q6P3V2-1", "length": 769, "uniprot_id": "Z585A_HUMAN", "protein_name": "Zinc finger protein 585A", "refseq_ac": "NP_001275729", "refseq_name": "zinc finger protein 585A isoform b", "gene_name": "ZNF585A", "gene_names_uniprotkb": "ZNF585A", "gene_names_refseq": "ZNF585A; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3V2", "url": "https://www.uniprot.org/uniprotkb/Q6P3V2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P3V2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3V2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VFSNNSNLVTHKKVQSREKS", "down_seq": "ICTECGKAFTYRSELIIHQR", "snv": [ { "evidence": [ { "id": "Q6P3V2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3V2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2053", "subjects_positive": "7", "frequency": "0.3", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "37152673", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S354", "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": "snv", "site_list": [ { "start_pos": "354", "end_pos": "354" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "93", "end_pos": "93" } ] } ], "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": "Q6P3V2-1.458.458", "start_pos": 458, "end_pos": 458, "uniprot_canonical_ac": "Q6P3V2-1", "length": 769, "uniprot_id": "Z585A_HUMAN", "protein_name": "Zinc finger protein 585A", "refseq_ac": "NP_001275729", "refseq_name": "zinc finger protein 585A isoform b", "gene_name": "ZNF585A", "gene_names_uniprotkb": "ZNF585A", "gene_names_refseq": "ZNF585A; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3V2", "url": "https://www.uniprot.org/uniprotkb/Q6P3V2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P3V2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3V2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "HKCGHCGKLFTSKSQLHVHK", "down_seq": "IHTGEKPYMCNKCGKAFTNR", "snv": [ { "evidence": [ { "id": "Q6P3V2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3V2" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "5", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "37152526", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R458", "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": "354", "end_pos": "354" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "93", "end_pos": "93" } ] } ], "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": "Q6P3V2-1.554.554", "start_pos": 554, "end_pos": 554, "uniprot_canonical_ac": "Q6P3V2-1", "length": 769, "uniprot_id": "Z585A_HUMAN", "protein_name": "Zinc finger protein 585A", "refseq_ac": "NP_001275729", "refseq_name": "zinc finger protein 585A isoform b", "gene_name": "ZNF585A", "gene_names_uniprotkb": "ZNF585A", "gene_names_refseq": "ZNF585A; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3V2", "url": "https://www.uniprot.org/uniprotkb/Q6P3V2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P3V2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3V2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "KSHLNIHQKIHTGERQYECH", "down_seq": "CGKAFNQKSILIVHQKIHTG", "snv": [ { "evidence": [ { "id": "Q6P3V2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3V2" } ], "glycoeffect": [], "subjects_tested": "2617", "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": "37152239", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E554", "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: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": "354", "end_pos": "354" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "93", "end_pos": "93" } ] } ], "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": "Q6P3V2-1.93.93", "start_pos": 93, "end_pos": 93, "uniprot_canonical_ac": "Q6P3V2-1", "length": 769, "uniprot_id": "Z585A_HUMAN", "protein_name": "Zinc finger protein 585A", "refseq_ac": "NP_001275729", "refseq_name": "zinc finger protein 585A isoform b", "gene_name": "ZNF585A", "gene_names_uniprotkb": "ZNF585A", "gene_names_refseq": "ZNF585A; Zfp27", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6P3V2", "url": "https://www.uniprot.org/uniprotkb/Q6P3V2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6P3V2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3V2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AEVVMLEQGKEPWALQGERP", "down_seq": "QSCPGEKLWDHNQCRKILSY", "snv": [ { "evidence": [ { "id": "Q6P3V2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6P3V2" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "37155879", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R93", "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: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": "snv", "site_list": [ { "start_pos": "354", "end_pos": "354" }, { "start_pos": "458", "end_pos": "458" }, { "start_pos": "554", "end_pos": "554" }, { "start_pos": "93", "end_pos": "93" } ] } ], "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": "E7ETH6-1.207.207", "start_pos": 207, "end_pos": 207, "uniprot_canonical_ac": "E7ETH6-1", "length": 402, "uniprot_id": "Z587B_HUMAN", "protein_name": "Zinc finger protein 587B", "refseq_ac": "NP_001191747", "refseq_name": "zinc finger protein 587B isoform 2", "gene_name": "ZNF587B", "gene_names_uniprotkb": "ZNF587B", "gene_names_refseq": "ZNF587B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "E7ETH6", "url": "https://www.uniprot.org/uniprotkb/E7ETH6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "E7ETH6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/E7ETH6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "QQEASHTGEKSNSKTECVSP", "down_seq": "QCGGAHYSHGDSMKHFSTKH", "snv": [ { "evidence": [ { "id": "E7ETH6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/E7ETH6" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (7).", "chr_id": "19", "chr_pos": "57841293", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "F207", "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: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: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: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" } ] }, { "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": "207", "end_pos": "207" }, { "start_pos": "321", "end_pos": "321" } ] } ], "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": "E7ETH6-1.321.321", "start_pos": 321, "end_pos": 321, "uniprot_canonical_ac": "E7ETH6-1", "length": 402, "uniprot_id": "Z587B_HUMAN", "protein_name": "Zinc finger protein 587B", "refseq_ac": "NP_001191747", "refseq_name": "zinc finger protein 587B isoform 2", "gene_name": "ZNF587B", "gene_names_uniprotkb": "ZNF587B", "gene_names_refseq": "ZNF587B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "E7ETH6", "url": "https://www.uniprot.org/uniprotkb/E7ETH6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "E7ETH6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/E7ETH6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "EECGKYFSLEGYLRRHQKVH", "down_seq": "GKGPYECGECGKSFSSNVNL", "snv": [ { "evidence": [ { "id": "E7ETH6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/E7ETH6" } ], "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 (3).", "chr_id": "19", "chr_pos": "57841635", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A321", "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": "snv", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "321", "end_pos": "321" } ] } ], "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": "P35789-1.607.607", "start_pos": 607, "end_pos": 607, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "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": "P35789", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35789" }, { "database": "O-GlcNAc Atlas", "id": "P35789", "url": "https://oglcnac.org/atlas/detail/P35789" } ], "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": "P35789", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35789", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "P35789", "url": "https://oglcnac.org/atlas/detail/P35789", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1249028729", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1249028729", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1249028729", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1249028729#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1249028729", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1249028729", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1599575811", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599575811", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1599575811", "url": "https://www.ensembl.org/id/rs1599575811", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HSGEKPYECDKCGKAFISPS", "down_seq": "LSRHEIIHTGEKP", "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": "Ser607", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "P35789", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35789" }, { "id": "P35789", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P35789" } ] } ], "snv": [ { "evidence": [ { "id": "rs1249028729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1249028729" }, { "id": "rs1249028729", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1249028729#frequency_tab" }, { "id": "rs1249028729", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1249028729" } ], "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 (SLS->NLS); o-glyco-site-loss (S->N).", "chr_id": "19", "chr_pos": "19934775", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S607", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1599575811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599575811" }, { "id": "rs1599575811", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1599575811" } ], "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": "19", "chr_pos": "19934776", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S607", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P35789-1.596.596", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P35789-1.609.609", "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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P35789-1.609.609", "start_pos": 609, "end_pos": 609, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "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": "P35789", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35789" }, { "database": "O-GlcNAc Atlas", "id": "P35789", "url": "https://oglcnac.org/atlas/detail/P35789" } ], "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": "P35789", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35789", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "P35789", "url": "https://oglcnac.org/atlas/detail/P35789", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1473261040", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1473261040", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1473261040", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1473261040", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs970431745", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs970431745", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs970431745", "url": "https://www.ncbi.nlm.nih.gov/snp/rs970431745#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs970431745", "url": "http://gnomad.broadinstitute.org/awesome?query=rs970431745", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GEKPYECDKCGKAFISPSSL", "down_seq": "RHEIIHTGEKP", "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": "Ser609", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "P35789", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P35789" }, { "id": "P35789", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P35789" } ] } ], "snv": [ { "evidence": [ { "id": "rs1473261040", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1473261040" }, { "id": "rs1473261040", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1473261040" } ], "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": "19", "chr_pos": "19934780", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S609", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs970431745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs970431745" }, { "id": "rs970431745", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs970431745#frequency_tab" }, { "id": "rs970431745", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs970431745" } ], "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": "19", "chr_pos": "19934782", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S609", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "P35789-1.596.596", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P35789-1.607.607", "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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P35789-1.121.121", "start_pos": 121, "end_pos": 121, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2063380346", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2063380346", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2063380346", "url": "https://www.ensembl.org/id/rs2063380346", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "RRYEKRGHGNLQLIKRCESV", "down_seq": "ECKVHTGGYNGLNQCSTTTQ", "snv": [ { "evidence": [ { "id": "rs2063380346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2063380346" }, { "id": "rs2063380346", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2063380346" } ], "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": "19", "chr_pos": "19933316", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D121", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "P35789-1.137.137", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P35789-1.137.137", "start_pos": 137, "end_pos": 137, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1339294197", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339294197", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1339294197", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1339294197", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CESVDECKVHTGGYNGLNQC", "down_seq": "TTTQSKVFQCDKYGKVFHKF", "snv": [ { "evidence": [ { "id": "rs1339294197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1339294197" }, { "id": "rs1339294197", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1339294197" } ], "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 (STT->NTT).", "chr_id": "19", "chr_pos": "19933365", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S137", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P35789-1.121.121", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "P35789-1.156.156", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P35789-1.156.156", "start_pos": 156, "end_pos": 156, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs747677488", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747677488", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs747677488", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747677488", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs747677488", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747677488#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs747677488", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747677488", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "CSTTTQSKVFQCDKYGKVFH", "down_seq": "FSNSNRHNIRHTEKKPFKCI", "snv": [ { "evidence": [ { "id": "rs747677488", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747677488" }, { "id": "rs747677488", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747677488" }, { "id": "rs747677488", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747677488#frequency_tab" }, { "id": "rs747677488", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747677488" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KFS->NFS).", "chr_id": "19", "chr_pos": "19933423", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K156", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "P35789-1.137.137", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "P35789-1.161.161", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P35789-1.161.161", "start_pos": 161, "end_pos": 161, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1356675730", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356675730", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1356675730", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1356675730#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1356675730", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1356675730", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QSKVFQCDKYGKVFHKFSNS", "down_seq": "RHNIRHTEKKPFKCIECGKA", "snv": [ { "evidence": [ { "id": "rs1356675730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1356675730" }, { "id": "rs1356675730", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1356675730#frequency_tab" }, { "id": "rs1356675730", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1356675730" } ], "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": "19", "chr_pos": "19933437", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N161", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "P35789-1.156.156", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P35789-1.185.185", "start_pos": 185, "end_pos": 185, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P35789", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs764038095", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764038095", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764038095", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764038095", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764038095", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764038095", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "IRHTEKKPFKCIECGKAFNQ", "down_seq": "STLITHKKIHTGEKPYICEE", "snv": [ { "evidence": [ { "id": "P35789", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NQF->NQC).", "chr_id": "19", "chr_pos": "19933509", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F185", "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": "rs764038095", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764038095" }, { "id": "rs764038095", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764038095" }, { "id": "rs764038095", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764038095" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQF->NQS).", "chr_id": "19", "chr_pos": "19933509", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F185", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "P35789-1.195.195", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "P35789-1.195.195", "start_pos": 195, "end_pos": 195, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P35789", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "CIECGKAFNQFSTLITHKKI", "down_seq": "TGEKPYICEECGKAFKYSSA", "snv": [ { "evidence": [ { "id": "P35789", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "19933538", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H195", "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: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": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "P35789-1.185.185", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "P35789-1.211.211", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P35789-1.211.211", "start_pos": 211, "end_pos": 211, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs764283149", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764283149", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764283149", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764283149", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764283149", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764283149", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "HKKIHTGEKPYICEECGKAF", "down_seq": "YSSALNTHKRIHTGEKPYKC", "snv": [ { "evidence": [ { "id": "rs764283149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764283149" }, { "id": "rs764283149", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764283149" }, { "id": "rs764283149", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764283149" } ], "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": "19", "chr_pos": "19933588", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K211", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "P35789-1.195.195", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P35789-1.232.232", "start_pos": 232, "end_pos": 232, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P35789", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1465774753", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465774753", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1465774753", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1465774753", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "YSSALNTHKRIHTGEKPYKC", "down_seq": "KCDKAFIASSTLSKHEIIHT", "snv": [ { "evidence": [ { "id": "P35789", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789" }, { "id": "rs1465774753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465774753" }, { "id": "rs1465774753", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1465774753" } ], "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 (DKC->NKC).", "chr_id": "19", "chr_pos": "19933649", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D232", "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", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "P35789-1.243.243", "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": "P35789-1.243.243", "start_pos": 243, "end_pos": 243, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P35789", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "HTGEKPYKCDKCDKAFIASS", "down_seq": "LSKHEIIHTGKKPYKCEECG", "snv": [ { "evidence": [ { "id": "P35789", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789" } ], "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 (TLS->NLS).", "chr_id": "19", "chr_pos": "19933683", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T243", "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": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P35789-1.232.232", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P35789-1.254.254", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P35789-1.254.254", "start_pos": 254, "end_pos": 254, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P35789", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "CDKAFIASSTLSKHEIIHTG", "down_seq": "KPYKCEECGKAFNQSSTLTK", "snv": [ { "evidence": [ { "id": "P35789", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "19933715", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K254", "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: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P35789-1.243.243", "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": "P35789-1.285.285", "start_pos": 285, "end_pos": 285, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs951488478", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs951488478", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs951488478", "url": "https://www.ncbi.nlm.nih.gov/snp/rs951488478#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs951488478", "url": "http://gnomad.broadinstitute.org/awesome?query=rs951488478", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "AFNQSSTLTKHKKIHTGEKP", "down_seq": "KCEECGKAFNQSSTLTKHKK", "snv": [ { "evidence": [ { "id": "rs951488478", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs951488478" }, { "id": "rs951488478", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs951488478#frequency_tab" }, { "id": "rs951488478", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs951488478" } ], "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 (YKC->NKC).", "chr_id": "19", "chr_pos": "19933808", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y285", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "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": "P35789-1.29.29", "start_pos": 29, "end_pos": 29, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1318601103", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1318601103", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1318601103", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1318601103", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1318601103", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1318601103", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "VAIEFSLEEWHCLDTAQRNL", "down_seq": "RNVMLENYSNLVFLGIVVSK", "snv": [ { "evidence": [ { "id": "rs1318601103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1318601103" }, { "id": "rs1318601103", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1318601103" }, { "id": "rs1318601103", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1318601103" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLY->NLC).", "chr_id": "19", "chr_pos": "19915362", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y29", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "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": "P35789-1.323.323", "start_pos": 323, "end_pos": 323, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs765870925", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765870925", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765870925", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765870925", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765870925", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765870925#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs765870925", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765870925", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "HKKIHTGEKPYVCEECGKAF", "down_seq": "YSRILTTHKRIHTGEKPYKC", "snv": [ { "evidence": [ { "id": "rs765870925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765870925" }, { "id": "rs765870925", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765870925" }, { "id": "rs765870925", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765870925#frequency_tab" }, { "id": "rs765870925", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765870925" } ], "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": "19", "chr_pos": "19933924", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K323", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "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": "P35789-1.355.355", "start_pos": 355, "end_pos": 355, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs769807623", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769807623", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs769807623", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769807623", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs769807623", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769807623#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs769807623", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769807623", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "HTGEKPYKCNKCGKAFIASS", "down_seq": "LSRHEFIHMGKKHYKCEECG", "snv": [ { "evidence": [ { "id": "rs769807623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769807623" }, { "id": "rs769807623", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769807623" }, { "id": "rs769807623", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769807623#frequency_tab" }, { "id": "rs769807623", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769807623" } ], "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": "19", "chr_pos": "19934019", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T355", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "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": "P35789-1.379.379", "start_pos": 379, "end_pos": 379, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs536651816", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536651816", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs536651816", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs536651816", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs536651816", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536651816", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs536651816", "url": "http://gnomad.broadinstitute.org/awesome?query=rs536651816", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "HEFIHMGKKHYKCEECGKAF", "down_seq": "WSSVLTRHKRVHTGEKPYKC", "snv": [ { "evidence": [ { "id": "rs536651816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536651816" }, { "id": "rs536651816", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs536651816" }, { "id": "rs536651816", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs536651816" }, { "id": "rs536651816", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs536651816" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IWS->NWS).", "chr_id": "19", "chr_pos": "19934091", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I379", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "P35789-1.390.390", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P35789-1.390.390", "start_pos": 390, "end_pos": 390, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P35789", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "KCEECGKAFIWSSVLTRHKR", "down_seq": "HTGEKPYKCEECGKAFKYSS", "snv": [ { "evidence": [ { "id": "P35789", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "19934124", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "V390", "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: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": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P35789-1.379.379", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "P35789-1.407.407", "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": "P35789-1.407.407", "start_pos": 407, "end_pos": 407, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1324263655", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324263655", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1324263655", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1324263655", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1324263655", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1324263655", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "HKRVHTGEKPYKCEECGKAF", "down_seq": "YSSTLSSHKRSHTGEKPYKC", "snv": [ { "evidence": [ { "id": "rs1324263655", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324263655" }, { "id": "rs1324263655", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1324263655" }, { "id": "rs1324263655", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1324263655" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KYS->NYS).", "chr_id": "19", "chr_pos": "19934176", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K407", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "P35789-1.390.390", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P35789-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "P35789-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "P35789-1.425.425", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P35789-1.416.416", "start_pos": 416, "end_pos": 416, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs369802065", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369802065", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs369802065", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369802065#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs369802065", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369802065", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PYKCEECGKAFKYSSTLSSH", "down_seq": "RSHTGEKPYKCEECGKAFVA", "snv": [ { "evidence": [ { "id": "rs369802065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369802065" }, { "id": "rs369802065", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369802065#frequency_tab" }, { "id": "rs369802065", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369802065" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KRS->NRS).", "chr_id": "19", "chr_pos": "19934203", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K416", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "P35789-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "P35789-1.418.418", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "P35789-1.425.425", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P35789-1.418.418", "start_pos": 418, "end_pos": 418, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P35789", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs762237950", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762237950", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs762237950", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762237950", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs762237950", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762237950#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs762237950", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762237950", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KCEECGKAFKYSSTLSSHKR", "down_seq": "HTGEKPYKCEECGKAFVASS", "snv": [ { "evidence": [ { "id": "P35789", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4177", "subjects_positive": "6", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "19934208", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S418", "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: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": "rs762237950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762237950" }, { "id": "rs762237950", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762237950" }, { "id": "rs762237950", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762237950#frequency_tab" }, { "id": "rs762237950", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762237950" } ], "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 (SHT->NHT).", "chr_id": "19", "chr_pos": "19934208", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S418", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "P35789-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "P35789-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "P35789-1.425.425", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "P35789-1.425.425", "start_pos": 425, "end_pos": 425, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs756305041", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756305041", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs756305041", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756305041", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs756305041", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756305041", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "AFKYSSTLSSHKRSHTGEKP", "down_seq": "KCEECGKAFVASSTLSKHEI", "snv": [ { "evidence": [ { "id": "rs756305041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756305041" }, { "id": "rs756305041", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756305041" }, { "id": "rs756305041", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756305041" } ], "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 (YKC->NKC).", "chr_id": "19", "chr_pos": "19934228", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y425", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "P35789-1.407.407", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "P35789-1.416.416", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "P35789-1.418.418", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P35789-1.474.474", "start_pos": 474, "end_pos": 474, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P35789", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "KCEECGKAFNQSSSLTKHKK", "down_seq": "HTGEKPYKCEECGKAFNQSS", "snv": [ { "evidence": [ { "id": "P35789", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (IHT->NHT).", "chr_id": "19", "chr_pos": "19934376", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I474", "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": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "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": "P35789-1.501.501", "start_pos": 501, "end_pos": 501, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P35789", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "YKCEECGKAFNQSSSLTKHK", "down_seq": "IHTGEKPYKCEECGKAFNQS", "snv": [ { "evidence": [ { "id": "P35789", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "19934457", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K501", "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: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": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "P35789-1.502.502", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P35789-1.502.502", "start_pos": 502, "end_pos": 502, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs150239312", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150239312", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs150239312", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150239312", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs150239312", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150239312", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs150239312", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150239312#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs150239312", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150239312", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "KCEECGKAFNQSSSLTKHKK", "down_seq": "HTGEKPYKCEECGKAFNQSS", "snv": [ { "evidence": [ { "id": "rs150239312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150239312" }, { "id": "rs150239312", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs150239312" }, { "id": "rs150239312", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs150239312" }, { "id": "rs150239312", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs150239312#frequency_tab" }, { "id": "rs150239312", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs150239312" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IHT->NHT).", "chr_id": "19", "chr_pos": "19934460", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.00824176", "site_lbl": "I502", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "P35789-1.501.501", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P35789-1.533.533", "start_pos": 533, "end_pos": 533, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P35789", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ECGKAFNQSSTLIKHKKIHT", "down_seq": "EKPYKCEECGKAFHLSTHLT", "snv": [ { "evidence": [ { "id": "P35789", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "19", "chr_pos": "19934552", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R533", "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: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: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": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "P35789-1.547.547", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P35789-1.547.547", "start_pos": 547, "end_pos": 547, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P35789", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "HKKIHTREKPYKCEECGKAF", "down_seq": "LSTHLTTHKILHTGEKPYRC", "snv": [ { "evidence": [ { "id": "P35789", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HLS->NLS).", "chr_id": "19", "chr_pos": "19934594", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H547", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "P35789-1.533.533", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P35789-1.54.54", "start_pos": 54, "end_pos": 54, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P35789", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LENYSNLVFLGIVVSKPDLI", "down_seq": "HLEQGKKPLTMKRHEMVANP", "snv": [ { "evidence": [ { "id": "P35789", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789" } ], "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 (4).", "chr_id": "19", "chr_pos": "19916589", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A54", "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: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": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "P35789-1.74.74", "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": "P35789-1.596.596", "start_pos": 596, "end_pos": 596, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P35789", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "HSATLSSHKKIHSGEKPYEC", "down_seq": "KCGKAFISPSSLSRHEIIHT", "snv": [ { "evidence": [ { "id": "P35789", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789" } ], "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 (DKC->NKC).", "chr_id": "19", "chr_pos": "19934741", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D596", "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": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "P35789-1.607.607", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "P35789-1.609.609", "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": "P35789-1.74.74", "start_pos": 74, "end_pos": 74, "uniprot_canonical_ac": "P35789-1", "length": 620, "uniprot_id": "ZNF93_HUMAN", "protein_name": "Zinc finger protein 93", "refseq_ac": "NP_112495", "refseq_name": "zinc finger protein 93", "gene_name": "ZNF93", "gene_names_uniprotkb": "ZNF93; ZNF505", "gene_names_refseq": "HPF34; HTF34; TF34; ZNF505; ZNF93", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P35789", "url": "https://www.uniprot.org/uniprotkb/P35789" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P35789", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2063325155", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2063325155", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2063325155", "url": "https://www.ensembl.org/id/rs2063325155", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2063325155", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2063325155", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "AHLEQGKKPLTMKRHEMVAN", "down_seq": "SVICSHFAQDLWPEQNIKDS", "snv": [ { "evidence": [ { "id": "P35789", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPS->NHS).", "chr_id": "19", "chr_pos": "19916650", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P74", "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": "P35789", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35789" }, { "id": "rs2063325155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2063325155" }, { "id": "rs2063325155", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2063325155" }, { "id": "rs2063325155", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2063325155" } ], "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": "19", "chr_pos": "19916650", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P74", "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": "607", "end_pos": "607" }, { "start_pos": "609", "end_pos": "609" } ] }, { "type": "snv", "site_list": [ { "start_pos": "607", "end_pos": "607" }, { "start_pos": "121", "end_pos": "121" }, { "start_pos": "137", "end_pos": "137" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "254", "end_pos": "254" }, { "start_pos": "285", "end_pos": "285" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "323", "end_pos": "323" }, { "start_pos": "355", "end_pos": "355" }, { "start_pos": "379", "end_pos": "379" }, { "start_pos": "390", "end_pos": "390" }, { "start_pos": "407", "end_pos": "407" }, { "start_pos": "416", "end_pos": "416" }, { "start_pos": "418", "end_pos": "418" }, { "start_pos": "425", "end_pos": "425" }, { "start_pos": "474", "end_pos": "474" }, { "start_pos": "501", "end_pos": "501" }, { "start_pos": "502", "end_pos": "502" }, { "start_pos": "533", "end_pos": "533" }, { "start_pos": "547", "end_pos": "547" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "596", "end_pos": "596" }, { "start_pos": "609", "end_pos": "609" }, { "start_pos": "74", "end_pos": "74" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "P35789-1.54.54", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q5BJH7-1.28.28", "start_pos": 28, "end_pos": 28, "uniprot_canonical_ac": "Q5BJH7-1", "length": 314, "uniprot_id": "YIF1B_HUMAN", "protein_name": "Protein YIF1B", "refseq_ac": "NP_001034761", "refseq_name": "protein YIF1B isoform 5", "gene_name": "YIF1B", "gene_names_uniprotkb": "YIF1B; PP4519; PRO9905", "gene_names_refseq": "FinGER8; KABAMAS; YIF1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "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": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "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": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "35513511", "url": "https://glygen.org/publication/PubMed/35513511" } ] }, { "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 Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7", "database": "O-GlcNAc Database", "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": "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": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "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": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs975447066", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs975447066", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs975447066", "url": "https://www.ncbi.nlm.nih.gov/snp/rs975447066#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q5BJH7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5BJH7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AAAAGTPRLRKWPSKRRIPV", "down_seq": "QPGMADPHQLFDDTSSAQSR", "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": "Ser28", "evidence": [ { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "Q5BJH7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "Q5BJH7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" }, { "id": "35513511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35513511" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "snv": [ { "evidence": [ { "id": "rs975447066", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs975447066" }, { "id": "rs975447066", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs975447066#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": "19", "chr_pos": "38309619", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S28", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q5BJH7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5BJH7" } ], "glycoeffect": [ "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: o-glyco-site-loss (S->F).", "chr_id": "19", "chr_pos": "38309619", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S28", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "28", "end_pos": "28" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q5BJH7-1.13.13", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q5BJH7-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q5BJH7-1.42.42", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q5BJH7-1.43.43", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q5BJH7-1.44.44", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q5BJH7-1.47.47", "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": 12 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5BJH7-1.42.42", "start_pos": 42, "end_pos": 42, "uniprot_canonical_ac": "Q5BJH7-1", "length": 314, "uniprot_id": "YIF1B_HUMAN", "protein_name": "Protein YIF1B", "refseq_ac": "NP_001034761", "refseq_name": "protein YIF1B isoform 5", "gene_name": "YIF1B", "gene_names_uniprotkb": "YIF1B; PP4519; PRO9905", "gene_names_refseq": "FinGER8; KABAMAS; YIF1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] } ], "crossref": [ { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7", "database": "O-GlcNAc Database", "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": "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": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs532249930", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532249930", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs532249930", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs532249930", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs532249930", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532249930", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs532249930", "url": "https://www.ncbi.nlm.nih.gov/snp/rs532249930#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs532249930", "url": "http://gnomad.broadinstitute.org/awesome?query=rs532249930", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1412279221", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412279221", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1412279221", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1412279221#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KRRIPVSQPGMADPHQLFDD", "down_seq": "SSAQSRGYGAQRAPGGLSYP", "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": "Thr42", "evidence": [ { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "Q5BJH7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "Q5BJH7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ] } ], "snv": [ { "evidence": [ { "id": "rs532249930", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532249930" }, { "id": "rs532249930", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs532249930" }, { "id": "rs532249930", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs532249930" }, { "id": "rs532249930", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs532249930#frequency_tab" }, { "id": "rs532249930", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs532249930" } ], "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": "19", "chr_pos": "38309577", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "T42", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1412279221", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412279221" }, { "id": "rs1412279221", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1412279221#frequency_tab" } ], "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": "19", "chr_pos": "38309578", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T42", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "28", "end_pos": "28" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q5BJH7-1.28.28", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5BJH7-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q5BJH7-1.43.43", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5BJH7-1.44.44", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q5BJH7-1.47.47", "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": 9 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5BJH7-1.43.43", "start_pos": 43, "end_pos": 43, "uniprot_canonical_ac": "Q5BJH7-1", "length": 314, "uniprot_id": "YIF1B_HUMAN", "protein_name": "Protein YIF1B", "refseq_ac": "NP_001034761", "refseq_name": "protein YIF1B isoform 5", "gene_name": "YIF1B", "gene_names_uniprotkb": "YIF1B; PP4519; PRO9905", "gene_names_refseq": "FinGER8; KABAMAS; YIF1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "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": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1039885233", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1039885233", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1039885233", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1039885233#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1039885233", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1039885233", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RRIPVSQPGMADPHQLFDDT", "down_seq": "SAQSRGYGAQRAPGGLSYPA", "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": "Ser43", "evidence": [ { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "Q5BJH7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ] } ], "snv": [ { "evidence": [ { "id": "rs1039885233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1039885233" }, { "id": "rs1039885233", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1039885233#frequency_tab" }, { "id": "rs1039885233", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1039885233" } ], "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": "19", "chr_pos": "38309574", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S43", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "28", "end_pos": "28" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q5BJH7-1.28.28", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q5BJH7-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q5BJH7-1.42.42", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q5BJH7-1.44.44", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q5BJH7-1.47.47", "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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5BJH7-1.44.44", "start_pos": 44, "end_pos": 44, "uniprot_canonical_ac": "Q5BJH7-1", "length": 314, "uniprot_id": "YIF1B_HUMAN", "protein_name": "Protein YIF1B", "refseq_ac": "NP_001034761", "refseq_name": "protein YIF1B isoform 5", "gene_name": "YIF1B", "gene_names_uniprotkb": "YIF1B; PP4519; PRO9905", "gene_names_refseq": "FinGER8; KABAMAS; YIF1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "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 Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7", "database": "O-GlcNAc Database", "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": "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": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs967388675", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs967388675", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs967388675", "url": "https://www.ncbi.nlm.nih.gov/snp/rs967388675#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs967388675", "url": "http://gnomad.broadinstitute.org/awesome?query=rs967388675", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RIPVSQPGMADPHQLFDDTS", "down_seq": "AQSRGYGAQRAPGGLSYPAA", "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": "Ser44", "evidence": [ { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "Q5BJH7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "Q5BJH7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "snv": [ { "evidence": [ { "id": "rs967388675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs967388675" }, { "id": "rs967388675", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs967388675#frequency_tab" }, { "id": "rs967388675", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs967388675" } ], "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": "19", "chr_pos": "38309572", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S44", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "28", "end_pos": "28" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q5BJH7-1.28.28", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q5BJH7-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5BJH7-1.42.42", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q5BJH7-1.43.43", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q5BJH7-1.47.47", "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": 10 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5BJH7-1.47.47", "start_pos": 47, "end_pos": 47, "uniprot_canonical_ac": "Q5BJH7-1", "length": 314, "uniprot_id": "YIF1B_HUMAN", "protein_name": "Protein YIF1B", "refseq_ac": "NP_001034761", "refseq_name": "protein YIF1B isoform 5", "gene_name": "YIF1B", "gene_names_uniprotkb": "YIF1B; PP4519; PRO9905", "gene_names_refseq": "FinGER8; KABAMAS; YIF1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] }, { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862" } ] }, { "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": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "database": "O-GlcNAc Atlas", "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] } ], "crossref": [ { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5BJH7", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7", "database": "O-GlcNAc Database", "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": "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": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "29237092", "url": "https://glygen.org/publication/PubMed/29237092", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35132862", "url": "https://glygen.org/publication/PubMed/35132862", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5BJH7", "url": "https://oglcnac.org/atlas/detail/Q5BJH7", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VSQPGMADPHQLFDDTSSAQ", "down_seq": "RGYGAQRAPGGLSYPAASPT", "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": "Ser47", "evidence": [ { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "Q5BJH7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5BJH7" }, { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "Q5BJH7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q5BJH7" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "28", "end_pos": "28" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q5BJH7-1.28.28", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q5BJH7-1.40.40", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q5BJH7-1.42.42", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q5BJH7-1.43.43", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q5BJH7-1.44.44", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q5BJH7-1.65.65", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5BJH7-1.67.67", "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", "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": 9 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q5BJH7-1.149.149", "start_pos": 149, "end_pos": 149, "uniprot_canonical_ac": "Q5BJH7-1", "length": 314, "uniprot_id": "YIF1B_HUMAN", "protein_name": "Protein YIF1B", "refseq_ac": "NP_001034761", "refseq_name": "protein YIF1B isoform 5", "gene_name": "YIF1B", "gene_names_uniprotkb": "YIF1B; PP4519; PRO9905", "gene_names_refseq": "FinGER8; KABAMAS; YIF1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5BJH7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5BJH7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FPYLHQDWEVQYQQDTPVAP", "down_seq": "FDVNAPDLYIPAMAFITYVL", "snv": [ { "evidence": [ { "id": "Q5BJH7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5BJH7" } ], "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": "19", "chr_pos": "38309015", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R149", "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": "28", "end_pos": "28" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q5BJH7-1.155.155", "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": "Q5BJH7-1.155.155", "start_pos": 155, "end_pos": 155, "uniprot_canonical_ac": "Q5BJH7-1", "length": 314, "uniprot_id": "YIF1B_HUMAN", "protein_name": "Protein YIF1B", "refseq_ac": "NP_001034761", "refseq_name": "protein YIF1B isoform 5", "gene_name": "YIF1B", "gene_names_uniprotkb": "YIF1B; PP4519; PRO9905", "gene_names_refseq": "FinGER8; KABAMAS; YIF1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2513631660", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2513631660", "database": "dbSNP", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "DWEVQYQQDTPVAPRFDVNA", "down_seq": "DLYIPAMAFITYVLVAGLAL", "snv": [ { "evidence": [ { "id": "rs2513631660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2513631660" } ], "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": "19", "chr_pos": "38308997", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P155", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "28", "end_pos": "28" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q5BJH7-1.149.149", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q5BJH7-1.216.216", "start_pos": 216, "end_pos": 216, "uniprot_canonical_ac": "Q5BJH7-1", "length": 314, "uniprot_id": "YIF1B_HUMAN", "protein_name": "Protein YIF1B", "refseq_ac": "NP_001034761", "refseq_name": "protein YIF1B isoform 5", "gene_name": "YIF1B", "gene_names_uniprotkb": "YIF1B; PP4519; PRO9905", "gene_names_refseq": "FinGER8; KABAMAS; YIF1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs775846286", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775846286", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs775846286", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775846286", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs775846286", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775846286#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs775846286", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775846286", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs775846286", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775846286", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "WLTLEVLAILLSLYLVTVNT", "down_seq": "LTTIDLVAFLGYKYVGMIGG", "snv": [ { "evidence": [ { "id": "rs775846286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775846286" }, { "id": "rs775846286", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775846286" }, { "id": "rs775846286", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775846286#frequency_tab" }, { "id": "rs775846286", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775846286" }, { "id": "rs775846286", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs775846286" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "19", "chr_pos": "38307646", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D216", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "28", "end_pos": "28" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" } ] } ], "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": "Q5BJH7-1.257.257", "start_pos": 257, "end_pos": 257, "uniprot_canonical_ac": "Q5BJH7-1", "length": 314, "uniprot_id": "YIF1B_HUMAN", "protein_name": "Protein YIF1B", "refseq_ac": "NP_001034761", "refseq_name": "protein YIF1B isoform 5", "gene_name": "YIF1B", "gene_names_uniprotkb": "YIF1B; PP4519; PRO9905", "gene_names_refseq": "FinGER8; KABAMAS; YIF1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5BJH7", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5BJH7", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "VLMGLLFGKIGYYLVLGWCC", "down_seq": "AIFVFMIRTLRLKILADAAA", "snv": [ { "evidence": [ { "id": "Q5BJH7", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5BJH7" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "38307448", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V257", "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": "28", "end_pos": "28" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" } ] } ], "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": "Q5BJH7-1.40.40", "start_pos": 40, "end_pos": 40, "uniprot_canonical_ac": "Q5BJH7-1", "length": 314, "uniprot_id": "YIF1B_HUMAN", "protein_name": "Protein YIF1B", "refseq_ac": "NP_001034761", "refseq_name": "protein YIF1B isoform 5", "gene_name": "YIF1B", "gene_names_uniprotkb": "YIF1B; PP4519; PRO9905", "gene_names_refseq": "FinGER8; KABAMAS; YIF1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs778482639", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778482639", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778482639", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778482639", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778482639", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778482639#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs778482639", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778482639", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PSKRRIPVSQPGMADPHQLF", "down_seq": "DTSSAQSRGYGAQRAPGGLS", "snv": [ { "evidence": [ { "id": "rs778482639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778482639" }, { "id": "rs778482639", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778482639" }, { "id": "rs778482639", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778482639#frequency_tab" }, { "id": "rs778482639", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778482639" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DDT->NDT).", "chr_id": "19", "chr_pos": "38309584", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D40", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "28", "end_pos": "28" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q5BJH7-1.28.28", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5BJH7-1.42.42", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q5BJH7-1.43.43", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q5BJH7-1.44.44", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5BJH7-1.47.47", "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": "Q5BJH7-1.13.13", "start_pos": 13, "end_pos": 13, "uniprot_canonical_ac": "Q5BJH7-1", "length": 314, "uniprot_id": "YIF1B_HUMAN", "protein_name": "Protein YIF1B", "refseq_ac": "NP_001034761", "refseq_name": "protein YIF1B isoform 5", "gene_name": "YIF1B", "gene_names_uniprotkb": "YIF1B; PP4519; PRO9905", "gene_names_refseq": "FinGER8; KABAMAS; YIF1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MHPAGLAAAAAG", "down_seq": "PRLRKWPSKRRIPVSQPGMA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" } ], "site_lbl": "Thr13" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "28", "end_pos": "28" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "Q5BJH7-1.28.28", "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": 0 } ], "sort_fields": [] } ] }, { "id": "Q5BJH7-1.65.65", "start_pos": 65, "end_pos": 65, "uniprot_canonical_ac": "Q5BJH7-1", "length": 314, "uniprot_id": "YIF1B_HUMAN", "protein_name": "Protein YIF1B", "refseq_ac": "NP_001034761", "refseq_name": "protein YIF1B isoform 5", "gene_name": "YIF1B", "gene_names_uniprotkb": "YIF1B; PP4519; PRO9905", "gene_names_refseq": "FinGER8; KABAMAS; YIF1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" }, { "database": "iPTMnet", "id": "Q5BJH7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5BJH7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "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": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" }, { "database": "iPTMnet", "id": "Q5BJH7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5BJH7" } ], "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": "iPTMnet", "id": "Q5BJH7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5BJH7-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5BJH7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5BJH7", "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": "AQSRGYGAQRAPGGLSYPAA", "down_seq": "PTPHAAFLADPVSNMAMAYG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "Q5BJH7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5BJH7" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser65" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "28", "end_pos": "28" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q5BJH7-1.47.47", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5BJH7-1.67.67", "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": "Q5BJH7-1.67.67", "start_pos": 67, "end_pos": 67, "uniprot_canonical_ac": "Q5BJH7-1", "length": 314, "uniprot_id": "YIF1B_HUMAN", "protein_name": "Protein YIF1B", "refseq_ac": "NP_001034761", "refseq_name": "protein YIF1B isoform 5", "gene_name": "YIF1B", "gene_names_uniprotkb": "YIF1B; PP4519; PRO9905", "gene_names_refseq": "FinGER8; KABAMAS; YIF1B", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" } ], "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": "Q5BJH7", "url": "https://www.uniprot.org/uniprotkb/Q5BJH7" }, { "database": "iPTMnet", "id": "Q5BJH7-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5BJH7-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q5BJH7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5BJH7", "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": "SRGYGAQRAPGGLSYPAASP", "down_seq": "PHAAFLADPVSNMAMAYGSS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q5BJH7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5BJH7" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr67" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "28", "end_pos": "28" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" }, { "start_pos": "47", "end_pos": "47" } ] }, { "type": "snv", "site_list": [ { "start_pos": "149", "end_pos": "149" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "216", "end_pos": "216" }, { "start_pos": "257", "end_pos": "257" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "40", "end_pos": "40" }, { "start_pos": "42", "end_pos": "42" }, { "start_pos": "43", "end_pos": "43" }, { "start_pos": "44", "end_pos": "44" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "13", "end_pos": "13" }, { "start_pos": "65", "end_pos": "65" }, { "start_pos": "67", "end_pos": "67" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q5BJH7-1.47.47", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5BJH7-1.65.65", "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": "Q03936-1.268.268", "start_pos": 268, "end_pos": 268, "uniprot_canonical_ac": "Q03936-1", "length": 586, "uniprot_id": "ZNF92_HUMAN", "protein_name": "Zinc finger protein 92", "refseq_ac": "NP_001274461", "refseq_name": "zinc finger protein 92 isoform 3", "gene_name": "ZNF92", "gene_names_uniprotkb": "ZNF92", "gene_names_refseq": "HEL-203; HPF12; HTF12; TF12; ZNF92", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03936", "url": "https://www.uniprot.org/uniprotkb/Q03936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KIIHTGEKPYKCEECGKAFN", "down_seq": "SSTLTKHKRIHTEEKPYKCE", "snv": [ { "evidence": [ { "id": "Q03936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03936" } ], "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 (4).", "chr_id": "7", "chr_pos": "65398917", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R268", "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: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": "268", "end_pos": "268" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "94", "end_pos": "94" } ] } ], "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": "Q03936-1.372.372", "start_pos": 372, "end_pos": 372, "uniprot_canonical_ac": "Q03936-1", "length": 586, "uniprot_id": "ZNF92_HUMAN", "protein_name": "Zinc finger protein 92", "refseq_ac": "NP_001274461", "refseq_name": "zinc finger protein 92 isoform 3", "gene_name": "ZNF92", "gene_names_uniprotkb": "ZNF92", "gene_names_refseq": "HEL-203; HPF12; HTF12; TF12; ZNF92", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03936", "url": "https://www.uniprot.org/uniprotkb/Q03936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "QFSNLTKHKIIHTGEKPYKC", "down_seq": "ECGKAFNQSSTLTKHKRIHT", "snv": [ { "evidence": [ { "id": "Q03936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03936" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "7", "chr_pos": "65399230", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D372", "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: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: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": "268", "end_pos": "268" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q03936-1.389.389", "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": "Q03936-1.389.389", "start_pos": 389, "end_pos": 389, "uniprot_canonical_ac": "Q03936-1", "length": 586, "uniprot_id": "ZNF92_HUMAN", "protein_name": "Zinc finger protein 92", "refseq_ac": "NP_001274461", "refseq_name": "zinc finger protein 92 isoform 3", "gene_name": "ZNF92", "gene_names_uniprotkb": "ZNF92", "gene_names_refseq": "HEL-203; HPF12; HTF12; TF12; ZNF92", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03936", "url": "https://www.uniprot.org/uniprotkb/Q03936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YKCDECGKAFNQSSTLTKHK", "down_seq": "IHTGEKPYKCEECGKAFKQS", "snv": [ { "evidence": [ { "id": "Q03936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03936" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "65399280", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R389", "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": "268", "end_pos": "268" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "94", "end_pos": "94" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q03936-1.372.372", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q03936-1.429.429", "start_pos": 429, "end_pos": 429, "uniprot_canonical_ac": "Q03936-1", "length": 586, "uniprot_id": "ZNF92_HUMAN", "protein_name": "Zinc finger protein 92", "refseq_ac": "NP_001274461", "refseq_name": "zinc finger protein 92 isoform 3", "gene_name": "ZNF92", "gene_names_uniprotkb": "ZNF92", "gene_names_refseq": "HEL-203; HPF12; HTF12; TF12; ZNF92", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03936", "url": "https://www.uniprot.org/uniprotkb/Q03936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SSTLTEHKIIHTGEKPYKCE", "down_seq": "CGKAFSWSSAFTKHKRNHME", "snv": [ { "evidence": [ { "id": "Q03936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03936" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "7", "chr_pos": "65399399", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K429", "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: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: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": "snv", "site_list": [ { "start_pos": "268", "end_pos": "268" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "94", "end_pos": "94" } ] } ], "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": "Q03936-1.477.477", "start_pos": 477, "end_pos": 477, "uniprot_canonical_ac": "Q03936-1", "length": 586, "uniprot_id": "ZNF92_HUMAN", "protein_name": "Zinc finger protein 92", "refseq_ac": "NP_001274461", "refseq_name": "zinc finger protein 92 isoform 3", "gene_name": "ZNF92", "gene_names_uniprotkb": "ZNF92", "gene_names_refseq": "HEL-203; HPF12; HTF12; TF12; ZNF92", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03936", "url": "https://www.uniprot.org/uniprotkb/Q03936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ECGKAFSVFSTLTKHKIIHT", "down_seq": "EKPYKCEECGKAFNQSSIFT", "snv": [ { "evidence": [ { "id": "Q03936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03936" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "65399543", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R477", "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: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": "268", "end_pos": "268" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "94", "end_pos": "94" } ] } ], "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": "Q03936-1.513.513", "start_pos": 513, "end_pos": 513, "uniprot_canonical_ac": "Q03936-1", "length": 586, "uniprot_id": "ZNF92_HUMAN", "protein_name": "Zinc finger protein 92", "refseq_ac": "NP_001274461", "refseq_name": "zinc finger protein 92 isoform 3", "gene_name": "ZNF92", "gene_names_uniprotkb": "ZNF92", "gene_names_refseq": "HEL-203; HPF12; HTF12; TF12; ZNF92", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03936", "url": "https://www.uniprot.org/uniprotkb/Q03936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SSIFTKHKIIHTEGKSYKCE", "down_seq": "CGNAFNQSSNLTARKIIYTG", "snv": [ { "evidence": [ { "id": "Q03936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03936" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "65399651", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K513", "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: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": "268", "end_pos": "268" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "94", "end_pos": "94" } ] } ], "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": "Q03936-1.539.539", "start_pos": 539, "end_pos": 539, "uniprot_canonical_ac": "Q03936-1", "length": 586, "uniprot_id": "ZNF92_HUMAN", "protein_name": "Zinc finger protein 92", "refseq_ac": "NP_001274461", "refseq_name": "zinc finger protein 92 isoform 3", "gene_name": "ZNF92", "gene_names_uniprotkb": "ZNF92", "gene_names_refseq": "HEL-203; HPF12; HTF12; TF12; ZNF92", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03936", "url": "https://www.uniprot.org/uniprotkb/Q03936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "NQSSNLTARKIIYTGEKPYK", "down_seq": "EECDKAFNKFSTLITHQIIY", "snv": [ { "evidence": [ { "id": "Q03936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03936" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "65399730", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y539", "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" } ] }, { "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": "268", "end_pos": "268" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "94", "end_pos": "94" } ] } ], "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": "Q03936-1.94.94", "start_pos": 94, "end_pos": 94, "uniprot_canonical_ac": "Q03936-1", "length": 586, "uniprot_id": "ZNF92_HUMAN", "protein_name": "Zinc finger protein 92", "refseq_ac": "NP_001274461", "refseq_name": "zinc finger protein 92 isoform 3", "gene_name": "ZNF92", "gene_names_uniprotkb": "ZNF92", "gene_names_refseq": "HEL-203; HPF12; HTF12; TF12; ZNF92", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03936", "url": "https://www.uniprot.org/uniprotkb/Q03936" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03936", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03936", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TPVMCSHFAQDVWPEHSIKD", "down_seq": "FQKVILRTYGKYGHENLQLR", "snv": [ { "evidence": [ { "id": "Q03936", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03936" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "7", "chr_pos": "65398395", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S94", "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: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": "268", "end_pos": "268" }, { "start_pos": "372", "end_pos": "372" }, { "start_pos": "389", "end_pos": "389" }, { "start_pos": "429", "end_pos": "429" }, { "start_pos": "477", "end_pos": "477" }, { "start_pos": "513", "end_pos": "513" }, { "start_pos": "539", "end_pos": "539" }, { "start_pos": "94", "end_pos": "94" } ] } ], "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": "Q569K4-1.462.462", "start_pos": 462, "end_pos": 462, "uniprot_canonical_ac": "Q569K4-1", "length": 471, "uniprot_id": "Z385B_HUMAN", "protein_name": "Zinc finger protein 385B", "refseq_ac": "NP_001106868", "refseq_name": "zinc finger protein 385B isoform 2", "gene_name": "ZNF385B", "gene_names_uniprotkb": "ZNF385B; ZNF533", "gene_names_refseq": "ZNF385B; ZNF533", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q569K4", "url": "https://www.uniprot.org/uniprotkb/Q569K4" } ], "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": "FQAPAIPPALLRPGHGPIRA", "down_seq": "PASILFAPY", "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": "Thr462", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "462", "end_pos": "462" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "98", "end_pos": "98" } ] } ], "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": 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": "Q569K4-1.115.115", "start_pos": 115, "end_pos": 115, "uniprot_canonical_ac": "Q569K4-1", "length": 471, "uniprot_id": "Z385B_HUMAN", "protein_name": "Zinc finger protein 385B", "refseq_ac": "NP_001106868", "refseq_name": "zinc finger protein 385B isoform 2", "gene_name": "ZNF385B", "gene_names_uniprotkb": "ZNF385B; ZNF533", "gene_names_refseq": "ZNF385B; ZNF533", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q569K4", "url": "https://www.uniprot.org/uniprotkb/Q569K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q569K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "ALVRTPTLMMQPSLDIKPFM", "down_seq": "FPVDSSSAVGLFPNFNTMDP", "snv": [ { "evidence": [ { "id": "Q569K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "179544879", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S115", "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": "glycosylation", "site_list": [ { "start_pos": "462", "end_pos": "462" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "98", "end_pos": "98" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q569K4-1.98.98", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q569K4-1.139.139", "start_pos": 139, "end_pos": 139, "uniprot_canonical_ac": "Q569K4-1", "length": 471, "uniprot_id": "Z385B_HUMAN", "protein_name": "Zinc finger protein 385B", "refseq_ac": "NP_001106868", "refseq_name": "zinc finger protein 385B isoform 2", "gene_name": "ZNF385B", "gene_names_uniprotkb": "ZNF385B; ZNF533", "gene_names_refseq": "ZNF385B; ZNF533", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q569K4", "url": "https://www.uniprot.org/uniprotkb/Q569K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q569K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "DSSSAVGLFPNFNTMDPVQK", "down_seq": "VINHTFGVSIPPKKKQVISC", "snv": [ { "evidence": [ { "id": "Q569K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4" } ], "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": "2", "chr_pos": "179518619", "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: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": "462", "end_pos": "462" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "98", "end_pos": "98" } ] } ], "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": "Q569K4-1.195.195", "start_pos": 195, "end_pos": 195, "uniprot_canonical_ac": "Q569K4-1", "length": 471, "uniprot_id": "Z385B_HUMAN", "protein_name": "Zinc finger protein 385B", "refseq_ac": "NP_001106868", "refseq_name": "zinc finger protein 385B isoform 2", "gene_name": "ZNF385B", "gene_names_uniprotkb": "ZNF385B; ZNF533", "gene_names_refseq": "ZNF385B; ZNF533", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q569K4", "url": "https://www.uniprot.org/uniprotkb/Q569K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q569K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "HYKGSKHAKKVKALDATKNK", "down_seq": "KMVPSKDSAKANPSCSITPI", "snv": [ { "evidence": [ { "id": "Q569K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4" } ], "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": "2", "chr_pos": "179483359", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P195", "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": "462", "end_pos": "462" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "98", "end_pos": "98" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q569K4-1.208.208", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q569K4-1.208.208", "start_pos": 208, "end_pos": 208, "uniprot_canonical_ac": "Q569K4-1", "length": 471, "uniprot_id": "Z385B_HUMAN", "protein_name": "Zinc finger protein 385B", "refseq_ac": "NP_001106868", "refseq_name": "zinc finger protein 385B isoform 2", "gene_name": "ZNF385B", "gene_names_uniprotkb": "ZNF385B; ZNF533", "gene_names_refseq": "ZNF385B; ZNF533", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q569K4", "url": "https://www.uniprot.org/uniprotkb/Q569K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q569K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LDATKNKPKMVPSKDSAKAN", "down_seq": "SCSITPITGNNSDKSEDKGK", "snv": [ { "evidence": [ { "id": "Q569K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPS->NHS).", "chr_id": "2", "chr_pos": "179483319", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P208", "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" ] }, { "evidence": [ { "id": "Q569K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4" } ], "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": "2", "chr_pos": "179483320", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P208", "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": "462", "end_pos": "462" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "98", "end_pos": "98" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q569K4-1.195.195", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q569K4-1.319.319", "start_pos": 319, "end_pos": 319, "uniprot_canonical_ac": "Q569K4-1", "length": 471, "uniprot_id": "Z385B_HUMAN", "protein_name": "Zinc finger protein 385B", "refseq_ac": "NP_001106868", "refseq_name": "zinc finger protein 385B isoform 2", "gene_name": "ZNF385B", "gene_names_uniprotkb": "ZNF385B; ZNF533", "gene_names_refseq": "ZNF385B; ZNF533", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q569K4", "url": "https://www.uniprot.org/uniprotkb/Q569K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q569K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "QLEAHNTGSKHKTMVEARNG", "down_seq": "GPIKSYPRPGSRLKMQNGSK", "snv": [ { "evidence": [ { "id": "Q569K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NGA->NGT).", "chr_id": "2", "chr_pos": "179445690", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A319", "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": "462", "end_pos": "462" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "98", "end_pos": "98" } ] } ], "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": "Q569K4-1.370.370", "start_pos": 370, "end_pos": 370, "uniprot_canonical_ac": "Q569K4-1", "length": 471, "uniprot_id": "Z385B_HUMAN", "protein_name": "Zinc finger protein 385B", "refseq_ac": "NP_001106868", "refseq_name": "zinc finger protein 385B isoform 2", "gene_name": "ZNF385B", "gene_names_uniprotkb": "ZNF385B; ZNF533", "gene_names_refseq": "ZNF385B; ZNF533", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q569K4", "url": "https://www.uniprot.org/uniprotkb/Q569K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q569K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CEICDVHVNSEIQLKQHISS", "down_seq": "RHKDRVAGKPLKPKYSPYNK", "snv": [ { "evidence": [ { "id": "Q569K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "179444964", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R370", "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: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": "462", "end_pos": "462" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "98", "end_pos": "98" } ] } ], "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": "Q569K4-1.393.393", "start_pos": 393, "end_pos": 393, "uniprot_canonical_ac": "Q569K4-1", "length": 471, "uniprot_id": "Z385B_HUMAN", "protein_name": "Zinc finger protein 385B", "refseq_ac": "NP_001106868", "refseq_name": "zinc finger protein 385B isoform 2", "gene_name": "ZNF385B", "gene_names_uniprotkb": "ZNF385B; ZNF533", "gene_names_refseq": "ZNF385B; ZNF533", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q569K4", "url": "https://www.uniprot.org/uniprotkb/Q569K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q569K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KDRVAGKPLKPKYSPYNKLQ", "down_seq": "SPSILAAKLAFQKDMMKPLA", "snv": [ { "evidence": [ { "id": "Q569K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4" } ], "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 (4).", "chr_id": "2", "chr_pos": "179444896", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R393", "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": "glycosylation", "site_list": [ { "start_pos": "462", "end_pos": "462" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "98", "end_pos": "98" } ] } ], "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": "Q569K4-1.427.427", "start_pos": 427, "end_pos": 427, "uniprot_canonical_ac": "Q569K4-1", "length": 471, "uniprot_id": "Z385B_HUMAN", "protein_name": "Zinc finger protein 385B", "refseq_ac": "NP_001106868", "refseq_name": "zinc finger protein 385B isoform 2", "gene_name": "ZNF385B", "gene_names_uniprotkb": "ZNF385B; ZNF533", "gene_names_refseq": "ZNF385B; ZNF533", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q569K4", "url": "https://www.uniprot.org/uniprotkb/Q569K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q569K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "DMMKPLAPAFLSSPLAAAAA", "down_seq": "SSALSLPPRPSASLFQAPAI", "snv": [ { "evidence": [ { "id": "Q569K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "179443387", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V427", "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" } ] }, { "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": "462", "end_pos": "462" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "98", "end_pos": "98" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q569K4-1.436.436", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q569K4-1.436.436", "start_pos": 436, "end_pos": 436, "uniprot_canonical_ac": "Q569K4-1", "length": 471, "uniprot_id": "Z385B_HUMAN", "protein_name": "Zinc finger protein 385B", "refseq_ac": "NP_001106868", "refseq_name": "zinc finger protein 385B isoform 2", "gene_name": "ZNF385B", "gene_names_uniprotkb": "ZNF385B; ZNF533", "gene_names_refseq": "ZNF385B; ZNF533", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q569K4", "url": "https://www.uniprot.org/uniprotkb/Q569K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q569K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FLSSPLAAAAAVSSALSLPP", "down_seq": "PSASLFQAPAIPPALLRPGH", "snv": [ { "evidence": [ { "id": "Q569K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4" } ], "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": "2", "chr_pos": "179443359", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R436", "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: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": "462", "end_pos": "462" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "98", "end_pos": "98" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q569K4-1.427.427", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q569K4-1.59.59", "start_pos": 59, "end_pos": 59, "uniprot_canonical_ac": "Q569K4-1", "length": 471, "uniprot_id": "Z385B_HUMAN", "protein_name": "Zinc finger protein 385B", "refseq_ac": "NP_001106868", "refseq_name": "zinc finger protein 385B isoform 2", "gene_name": "ZNF385B", "gene_names_uniprotkb": "ZNF385B; ZNF533", "gene_names_refseq": "ZNF385B; ZNF533", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q569K4", "url": "https://www.uniprot.org/uniprotkb/Q569K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q569K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "CNIQLNSAAQAQVHSNGKSH", "down_seq": "KRVKQLSDGQPPPPAQASPS", "snv": [ { "evidence": [ { "id": "Q569K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "179769581", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R59", "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: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": "462", "end_pos": "462" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "98", "end_pos": "98" } ] } ], "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": "Q569K4-1.98.98", "start_pos": 98, "end_pos": 98, "uniprot_canonical_ac": "Q569K4-1", "length": 471, "uniprot_id": "Z385B_HUMAN", "protein_name": "Zinc finger protein 385B", "refseq_ac": "NP_001106868", "refseq_name": "zinc finger protein 385B isoform 2", "gene_name": "ZNF385B", "gene_names_uniprotkb": "ZNF385B; ZNF533", "gene_names_refseq": "ZNF385B; ZNF533", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q569K4", "url": "https://www.uniprot.org/uniprotkb/Q569K4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q569K4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PSSNSSTGSTCHTTTLPALV", "down_seq": "TPTLMMQPSLDIKPFMSFPV", "snv": [ { "evidence": [ { "id": "Q569K4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q569K4" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "179544931", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R98", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "462", "end_pos": "462" } ] }, { "type": "snv", "site_list": [ { "start_pos": "115", "end_pos": "115" }, { "start_pos": "139", "end_pos": "139" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "319", "end_pos": "319" }, { "start_pos": "370", "end_pos": "370" }, { "start_pos": "393", "end_pos": "393" }, { "start_pos": "427", "end_pos": "427" }, { "start_pos": "436", "end_pos": "436" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "98", "end_pos": "98" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q569K4-1.115.115", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "P08048-1.371.371", "start_pos": 371, "end_pos": 371, "uniprot_canonical_ac": "P08048-1", "length": 801, "uniprot_id": "ZFY_HUMAN", "protein_name": "Zinc finger Y-chromosomal protein", "refseq_ac": "NP_001138747", "refseq_name": "zinc finger Y-chromosomal protein isoform 2", "gene_name": "ZFY", "gene_names_uniprotkb": "ZFY", "gene_names_refseq": "ZFY; ZNF911", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08048", "url": "https://www.uniprot.org/uniprotkb/P08048" } ], "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": "FVPIAWAAAYGNNSDGIENR", "down_seq": "GTASALLHIDESAGLGRLAK", "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": "NGTASALLHIDESAGLGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn371", "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": "371", "end_pos": "371" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "596", "end_pos": "596" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "270", "end_pos": "270" } ] } ], "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": 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": "P08048-1.593.593", "start_pos": 593, "end_pos": 593, "uniprot_canonical_ac": "P08048-1", "length": 801, "uniprot_id": "ZFY_HUMAN", "protein_name": "Zinc finger Y-chromosomal protein", "refseq_ac": "NP_001138747", "refseq_name": "zinc finger Y-chromosomal protein isoform 2", "gene_name": "ZFY", "gene_names_uniprotkb": "ZFY", "gene_names_refseq": "ZFY; ZNF911", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08048", "url": "https://www.uniprot.org/uniprotkb/P08048" } ], "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": "P08048", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08048" } ], "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": "P08048", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08048", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "QCQYCEYRSADSSNLKTHIK", "down_seq": "KHSKEMPFKCDICLLTFSDT", "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": "Thr593", "evidence": [ { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "P08048", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08048" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "371", "end_pos": "371" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "596", "end_pos": "596" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "P08048-1.596.596", "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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P08048-1.596.596", "start_pos": 596, "end_pos": 596, "uniprot_canonical_ac": "P08048-1", "length": 801, "uniprot_id": "ZFY_HUMAN", "protein_name": "Zinc finger Y-chromosomal protein", "refseq_ac": "NP_001138747", "refseq_name": "zinc finger Y-chromosomal protein isoform 2", "gene_name": "ZFY", "gene_names_uniprotkb": "ZFY", "gene_names_refseq": "ZFY; ZNF911", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08048", "url": "https://www.uniprot.org/uniprotkb/P08048" } ], "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": "P08048", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08048" } ], "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": "P08048", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08048", "database": "O-GlcNAc Database", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "YCEYRSADSSNLKTHIKTKH", "down_seq": "KEMPFKCDICLLTFSDTKEV", "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": "Ser596", "evidence": [ { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "P08048", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08048" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "371", "end_pos": "371" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "596", "end_pos": "596" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "P08048-1.593.593", "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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "P08048-1.123.123", "start_pos": 123, "end_pos": 123, "uniprot_canonical_ac": "P08048-1", "length": 801, "uniprot_id": "ZFY_HUMAN", "protein_name": "Zinc finger Y-chromosomal protein", "refseq_ac": "NP_001138747", "refseq_name": "zinc finger Y-chromosomal protein isoform 2", "gene_name": "ZFY", "gene_names_uniprotkb": "ZFY", "gene_names_refseq": "ZFY; ZNF911", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08048", "url": "https://www.uniprot.org/uniprotkb/P08048" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1603311448", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1603311448", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1603311448", "url": "https://www.ensembl.org/id/rs1603311448", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DVTEEVSLPHCTVPDDVLAS", "down_seq": "ITSTSMSMPEHVLTSESMHV", "snv": [ { "evidence": [ { "id": "rs1603311448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1603311448" }, { "id": "rs1603311448", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1603311448" } ], "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": "Y", "chr_pos": "2961379", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D123", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "371", "end_pos": "371" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "596", "end_pos": "596" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "270", "end_pos": "270" } ] } ], "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": "P08048-1.464.464", "start_pos": 464, "end_pos": 464, "uniprot_canonical_ac": "P08048-1", "length": 801, "uniprot_id": "ZFY_HUMAN", "protein_name": "Zinc finger Y-chromosomal protein", "refseq_ac": "NP_001138747", "refseq_name": "zinc finger Y-chromosomal protein isoform 2", "gene_name": "ZFY", "gene_names_uniprotkb": "ZFY", "gene_names_refseq": "ZFY; ZNF911", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08048", "url": "https://www.uniprot.org/uniprotkb/P08048" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs768016802", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768016802", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768016802", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768016802", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768016802", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768016802", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PEHLAKKKYHCTDCDYTTNK", "down_seq": "ISLHNHLESHKLTSKAEKAI", "snv": [ { "evidence": [ { "id": "rs768016802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768016802" }, { "id": "rs768016802", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768016802" }, { "id": "rs768016802", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768016802" } ], "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": "Y", "chr_pos": "2978979", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K464", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "371", "end_pos": "371" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "596", "end_pos": "596" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "270", "end_pos": "270" } ] } ], "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": "P08048-1.487.487", "start_pos": 487, "end_pos": 487, "uniprot_canonical_ac": "P08048-1", "length": 801, "uniprot_id": "ZFY_HUMAN", "protein_name": "Zinc finger Y-chromosomal protein", "refseq_ac": "NP_001138747", "refseq_name": "zinc finger Y-chromosomal protein isoform 2", "gene_name": "ZFY", "gene_names_uniprotkb": "ZFY", "gene_names_refseq": "ZFY; ZNF911", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08048", "url": "https://www.uniprot.org/uniprotkb/P08048" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "P08048", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P08048", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LHNHLESHKLTSKAEKAIEC", "down_seq": "ECGKHFSHAGALFTHKMVHK", "snv": [ { "evidence": [ { "id": "P08048", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P08048" } ], "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 (DEC->NEC).", "chr_id": "24", "chr_pos": "2979046", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D487", "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": "371", "end_pos": "371" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "596", "end_pos": "596" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "270", "end_pos": "270" } ] } ], "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": "P08048-1.751.751", "start_pos": 751, "end_pos": 751, "uniprot_canonical_ac": "P08048-1", "length": 801, "uniprot_id": "ZFY_HUMAN", "protein_name": "Zinc finger Y-chromosomal protein", "refseq_ac": "NP_001138747", "refseq_name": "zinc finger Y-chromosomal protein isoform 2", "gene_name": "ZFY", "gene_names_uniprotkb": "ZFY", "gene_names_refseq": "ZFY; ZNF911", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08048", "url": "https://www.uniprot.org/uniprotkb/P08048" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs774602808", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774602808", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774602808", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774602808", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774602808", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774602808", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KKHMKTHSGRKVYQCEYCEY", "down_seq": "TTDASGFKRHVISIHTKDYP", "snv": [ { "evidence": [ { "id": "rs774602808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774602808" }, { "id": "rs774602808", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774602808" }, { "id": "rs774602808", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774602808" } ], "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 (STT->NTT).", "chr_id": "Y", "chr_pos": "2979839", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S751", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "371", "end_pos": "371" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "596", "end_pos": "596" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "270", "end_pos": "270" } ] } ], "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": "P08048-1.270.270", "start_pos": 270, "end_pos": 270, "uniprot_canonical_ac": "P08048-1", "length": 801, "uniprot_id": "ZFY_HUMAN", "protein_name": "Zinc finger Y-chromosomal protein", "refseq_ac": "NP_001138747", "refseq_name": "zinc finger Y-chromosomal protein isoform 2", "gene_name": "ZFY", "gene_names_uniprotkb": "ZFY", "gene_names_refseq": "ZFY; ZNF911", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P08048", "url": "https://www.uniprot.org/uniprotkb/P08048" } ], "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": "P08048-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08048-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "P08048", "url": "https://www.uniprot.org/uniprotkb/P08048", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08048", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08048", "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": "YIFKADPGEDDLGGTVDIVE", "down_seq": "EPENDHGVELLDQNSSIRVP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08048", "url": "https://www.uniprot.org/uniprotkb/P08048" }, { "database": "iPTMnet", "id": "P08048", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08048" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser270" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "371", "end_pos": "371" }, { "start_pos": "593", "end_pos": "593" }, { "start_pos": "596", "end_pos": "596" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "487", "end_pos": "487" }, { "start_pos": "751", "end_pos": "751" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "270", "end_pos": "270" } ] } ], "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": "Q969W1-1.249.256", "start_pos": 249, "end_pos": 256, "uniprot_canonical_ac": "Q969W1-1", "length": 377, "uniprot_id": "ZDH16_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC16", "refseq_ac": "NP_001274732", "refseq_name": "palmitoyltransferase ZDHHC16 isoform 5", "gene_name": "ZDHHC16", "gene_names_uniprotkb": "ZDHHC16; APH2; PRO6258", "gene_names_refseq": "APH2; DHHC-16; ZDHHC16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969W1", "url": "https://www.uniprot.org/uniprotkb/Q969W1" } ], "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": "HQTPPPTF", "start_aa": "H", "up_seq": "IEKMKQLDKNKLQAVANQTY", "down_seq": "SFRERMTHKSLVYLWFLCSS", "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": "HQTPPPTF", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "icn3d_view": {}, "start_aa": "His", "end_aa": "Phe", "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": "249", "end_pos": "256" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "5", "end_pos": "5" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "24", "end_pos": "24" } ] } ], "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", "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": "Q969W1-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q969W1-1", "length": 377, "uniprot_id": "ZDH16_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC16", "refseq_ac": "NP_001274732", "refseq_name": "palmitoyltransferase ZDHHC16 isoform 5", "gene_name": "ZDHHC16", "gene_names_uniprotkb": "ZDHHC16; APH2; PRO6258", "gene_names_refseq": "APH2; DHHC-16; ZDHHC16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969W1", "url": "https://www.uniprot.org/uniprotkb/Q969W1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q969W1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q969W1" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] } ], "crossref": [ { "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q969W1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q969W1", "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": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "Q969W1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q969W1" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "249", "end_pos": "256" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "5", "end_pos": "5" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "24", "end_pos": "24" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q969W1-1.5.5", "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": "Q969W1-1.140.140", "start_pos": 140, "end_pos": 140, "uniprot_canonical_ac": "Q969W1-1", "length": 377, "uniprot_id": "ZDH16_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC16", "refseq_ac": "NP_001274732", "refseq_name": "palmitoyltransferase ZDHHC16 isoform 5", "gene_name": "ZDHHC16", "gene_names_uniprotkb": "ZDHHC16; APH2; PRO6258", "gene_names_refseq": "APH2; DHHC-16; ZDHHC16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969W1", "url": "https://www.uniprot.org/uniprotkb/Q969W1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969W1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969W1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "FYSHWNLILIVFHYYQAITT", "down_seq": "PGYPPQGRNDIATVSICKKC", "snv": [ { "evidence": [ { "id": "Q969W1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969W1" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "97452265", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P140", "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": "249", "end_pos": "256" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "5", "end_pos": "5" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "24", "end_pos": "24" } ] } ], "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": "Q969W1-1.198.198", "start_pos": 198, "end_pos": 198, "uniprot_canonical_ac": "Q969W1-1", "length": 377, "uniprot_id": "ZDH16_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC16", "refseq_ac": "NP_001274732", "refseq_name": "palmitoyltransferase ZDHHC16 isoform 5", "gene_name": "ZDHHC16", "gene_names_uniprotkb": "ZDHHC16; APH2; PRO6258", "gene_names_refseq": "APH2; DHHC-16; ZDHHC16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969W1", "url": "https://www.uniprot.org/uniprotkb/Q969W1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969W1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969W1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VLKMDHHCPWLNNCVGHYNH", "down_seq": "YFFSFCFFMTLGCVYCSYGS", "snv": [ { "evidence": [ { "id": "Q969W1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969W1" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "97453566", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R198", "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: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": "249", "end_pos": "256" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "5", "end_pos": "5" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "24", "end_pos": "24" } ] } ], "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": "Q969W1-1.345.345", "start_pos": 345, "end_pos": 345, "uniprot_canonical_ac": "Q969W1-1", "length": 377, "uniprot_id": "ZDH16_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC16", "refseq_ac": "NP_001274732", "refseq_name": "palmitoyltransferase ZDHHC16 isoform 5", "gene_name": "ZDHHC16", "gene_names_uniprotkb": "ZDHHC16; APH2; PRO6258", "gene_names_refseq": "APH2; DHHC-16; ZDHHC16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969W1", "url": "https://www.uniprot.org/uniprotkb/Q969W1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969W1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969W1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "GCLDNWKVFLGVDTGRHWLT", "down_seq": "VLLPSSHLPHGNGMSWEPPP", "snv": [ { "evidence": [ { "id": "Q969W1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969W1" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "97456790", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R345", "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: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": "249", "end_pos": "256" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "5", "end_pos": "5" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "24", "end_pos": "24" } ] } ], "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": "Q969W1-1.5.5", "start_pos": 5, "end_pos": 5, "uniprot_canonical_ac": "Q969W1-1", "length": 377, "uniprot_id": "ZDH16_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC16", "refseq_ac": "NP_001274732", "refseq_name": "palmitoyltransferase ZDHHC16 isoform 5", "gene_name": "ZDHHC16", "gene_names_uniprotkb": "ZDHHC16; APH2; PRO6258", "gene_names_refseq": "APH2; DHHC-16; ZDHHC16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969W1", "url": "https://www.uniprot.org/uniprotkb/Q969W1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q969W1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969W1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MRGQ", "down_seq": "SLLLGPARLCLRLLLLLGYR", "snv": [ { "evidence": [ { "id": "Q969W1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q969W1" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "97451689", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R5", "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: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": "249", "end_pos": "256" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "5", "end_pos": "5" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "24", "end_pos": "24" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q969W1-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q969W1-1.24.24", "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": "Q969W1-1.24.24", "start_pos": 24, "end_pos": 24, "uniprot_canonical_ac": "Q969W1-1", "length": 377, "uniprot_id": "ZDH16_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC16", "refseq_ac": "NP_001274732", "refseq_name": "palmitoyltransferase ZDHHC16 isoform 5", "gene_name": "ZDHHC16", "gene_names_uniprotkb": "ZDHHC16; APH2; PRO6258", "gene_names_refseq": "APH2; DHHC-16; ZDHHC16", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q969W1", "url": "https://www.uniprot.org/uniprotkb/Q969W1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "Q969W1-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969W1-1" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] } ], "crossref": [ { "id": "Q969W1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969W1", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "QRSLLLGPARLCLRLLLLLG", "down_seq": "RRRCPPLLRGLVQRWRYGKV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q969W1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q969W1" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Tyr24" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "249", "end_pos": "256" } ] }, { "type": "snv", "site_list": [ { "start_pos": "140", "end_pos": "140" }, { "start_pos": "198", "end_pos": "198" }, { "start_pos": "345", "end_pos": "345" }, { "start_pos": "5", "end_pos": "5" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "24", "end_pos": "24" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q969W1-1.5.5", "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": "Q96TA2-1.109.109", "start_pos": 109, "end_pos": 109, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" }, { "database": "O-GlcNAc Atlas", "id": "Q96TA2", "url": "https://oglcnac.org/atlas/detail/Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] } ], "crossref": [ { "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96TA2", "url": "https://oglcnac.org/atlas/detail/Q96TA2", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q96TA2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KRMKKSLDTTDNWHIRPEPF", "down_seq": "LSIPPSLNLRDLGLSELKIG", "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": "Ser109", "evidence": [ { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "Q96TA2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q96TA2" } ] } ], "snv": [ { "evidence": [ { "id": "Q96TA2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2" } ], "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: o-glyco-site-loss (S->F).", "chr_id": "10", "chr_pos": "27147511", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S109", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q96TA2-1.111.111", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q96TA2-1.115.115", "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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96TA2-1.111.111", "start_pos": 111, "end_pos": 111, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" }, { "database": "O-GlcNAc Atlas", "id": "Q96TA2", "url": "https://oglcnac.org/atlas/detail/Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] } ], "crossref": [ { "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96TA2", "url": "https://oglcnac.org/atlas/detail/Q96TA2", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MKKSLDTTDNWHIRPEPFSL", "down_seq": "IPPSLNLRDLGLSELKIGQI", "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": "Ser111", "evidence": [ { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "Q96TA2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q96TA2" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q96TA2-1.109.109", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q96TA2-1.115.115", "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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96TA2-1.115.115", "start_pos": 115, "end_pos": 115, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" }, { "database": "O-GlcNAc Atlas", "id": "Q96TA2", "url": "https://oglcnac.org/atlas/detail/Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "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": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] } ], "crossref": [ { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96TA2", "url": "https://oglcnac.org/atlas/detail/Q96TA2", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LDTTDNWHIRPEPFSLSIPP", "down_seq": "LNLRDLGLSELKIGQIDQLV", "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": "Ser115", "evidence": [ { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "Q96TA2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "Q96TA2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q96TA2" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q96TA2-1.109.109", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q96TA2-1.111.111", "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96TA2-1.155.155", "start_pos": 155, "end_pos": 155, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" }, { "database": "O-GlcNAc Atlas", "id": "Q96TA2", "url": "https://oglcnac.org/atlas/detail/Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] } ], "crossref": [ { "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96TA2", "url": "https://oglcnac.org/atlas/detail/Q96TA2", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VENLLPGFCKGKNISSHWHT", "down_seq": "HVSAQSFFENKYGNLDIFST", "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": "Ser155", "evidence": [ { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "Q96TA2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q96TA2" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q96TA2-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q96TA2-1.161.161", "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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96TA2-1.161.161", "start_pos": 161, "end_pos": 161, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" }, { "database": "O-GlcNAc Atlas", "id": "Q96TA2", "url": "https://oglcnac.org/atlas/detail/Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "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": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] } ], "crossref": [ { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96TA2", "url": "https://oglcnac.org/atlas/detail/Q96TA2", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GFCKGKNISSHWHTSHVSAQ", "down_seq": "FFENKYGNLDIFSTLRSSCL", "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": "Ser161", "evidence": [ { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "Q96TA2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "Q96TA2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q96TA2" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q96TA2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q96TA2-1.156.156", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q96TA2-1.177.177", "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96TA2-1.220.220", "start_pos": 220, "end_pos": 220, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" }, { "database": "O-GlcNAc Atlas", "id": "Q96TA2", "url": "https://oglcnac.org/atlas/detail/Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "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": "Q96TA2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96TA2" }, { "database": "IEDB", "id": "220085", "url": "https://www.iedb.org/epitope/220085" }, { "database": "IEDB", "id": "478818", "url": "https://www.iedb.org/epitope/478818" }, { "database": "IEDB", "id": "589395", "url": "https://www.iedb.org/epitope/589395" }, { "database": "IEDB", "id": "1084979", "url": "https://www.iedb.org/epitope/1084979" }, { "database": "IEDB", "id": "1354396", "url": "https://www.iedb.org/epitope/1354396" } ], "reference": [ { "type": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ] }, { "title": "A TCR mimic monoclonal antibody reactive with the `public` phospho-neoantigen pIRS2/HLA-A*02:01 complex.", "journal": "JCI insight", "date": "2022-03-08", "authors": "Dao Tao, Mun Sung Soo, Molvi Zaki, Korontsvit Tatyana, Klatt Martin G, Khan Abdul G, Nyakatura Elisabeth K, Pohl Mary Ann, White Thomas E, Balderes Paul J, Lorenz Ivo C, O'Reilly Richard J, Scheinberg David A", "evidence": [ { "database": "iPTMnet", "id": "Q96TA2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "35260532", "url": "https://glygen.org/publication/PubMed/35260532" } ] } ], "crossref": [ { "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96TA2", "url": "https://oglcnac.org/atlas/detail/Q96TA2", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q96TA2", "url": "https://www.iedb.org/epitope/Q96TA2", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q96TA2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96TA2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35260532", "url": "https://glygen.org/publication/PubMed/35260532", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PVFIQSRGFKTLKSRTRRLQ", "down_seq": "TSERLAETQNIAPSFVKGFL", "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": "Ser220", "evidence": [ { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "Q96TA2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q96TA2" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q96TA2", "url": "https://www.iedb.org/epitope/Q96TA2" }, { "database": "iPTMnet", "id": "Q96TA2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96TA2" }, { "database": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" }, { "database": "PubMed", "id": "35260532", "url": "https://glygen.org/publication/PubMed/35260532" } ], "site_lbl": "Ser220" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "glycosylation_flag", "phosphorylation_flag" ], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q96TA2-1.222.222", "categories": [ "glycosylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q96TA2-1.232.232", "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96TA2-1.222.222", "start_pos": 222, "end_pos": 222, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" }, { "database": "O-GlcNAc Atlas", "id": "Q96TA2", "url": "https://oglcnac.org/atlas/detail/Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "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": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] } ], "crossref": [ { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96TA2", "url": "https://oglcnac.org/atlas/detail/Q96TA2", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FIQSRGFKTLKSRTRRLQST", "down_seq": "ERLAETQNIAPSFVKGFLLR", "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": "Ser222", "evidence": [ { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "Q96TA2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "Q96TA2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q96TA2" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q96TA2-1.220.220", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q96TA2-1.232.232", "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96TA2-1.28.28", "start_pos": 28, "end_pos": 28, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "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": "VQPQVTVPLSHLINAFHTPK", "down_seq": "TSVSLSGVSVSQNQHRDVVP", "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": "NTSVSLSGVSVSQNQHR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn28", "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": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q96TA2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q96TA2-1.30.30", "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": "Q96TA2-1.335.335", "start_pos": 335, "end_pos": 335, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "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": "SVRFRTTTGLDSAVDPVQMK", "down_seq": "VTFEHVKGVEEAKQELQEVV", "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": "NVTFEHVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn335", "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": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "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": 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": "Q96TA2-1.566.566", "start_pos": 566, "end_pos": 566, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" }, { "database": "O-GlcNAc Atlas", "id": "Q96TA2", "url": "https://oglcnac.org/atlas/detail/Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "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": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516" } ] } ], "crossref": [ { "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96TA2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208", "database": "PubMed", "categories": [ "Other" ] }, { "id": "40596516", "url": "https://glygen.org/publication/PubMed/40596516", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96TA2", "url": "https://oglcnac.org/atlas/detail/Q96TA2", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LENLVNQAALKAAVDGKEMV", "down_seq": "MKELEFSKDKILMGPERRSV", "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": "Thr566", "evidence": [ { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "Q96TA2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q96TA2" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "40596516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40596516" }, { "id": "Q96TA2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q96TA2" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q96TA2-1.579.579", "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96TA2-1.592.592", "start_pos": 592, "end_pos": 592, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] } ], "crossref": [ { "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": "23090970", "url": "https://glygen.org/publication/PubMed/23090970", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "FSKDKILMGPERRSVEIDNK", "down_seq": "KTITAYHESGHAIIAYYTKD", "glycosylation": [ { "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": "Asn592", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q96TA2-1.579.579", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q96TA2-1.600.600", "categories": [ "mutagenesis_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": 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": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q96TA2-1.641.641", "start_pos": 641, "end_pos": 641, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "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": "IMPRGPTLGHVSLLPENDRW", "down_seq": "ETRAQLLAQMDVSMGGRVAE", "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": "GPTLGHVSLLPENDRWNETR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn641", "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": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q96TA2-1.638.638", "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": "Q96TA2-1.680.680", "start_pos": 680, "end_pos": 680, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "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": "AEELIFGTDHITTGASSDFD", "down_seq": "ATKIAKRMVTKFGMSEKLGV", "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": "VAEELIFGTDHITTGASSDFDNATK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn680", "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": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "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": 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": "Q96TA2-1.439.439", "start_pos": 439, "end_pos": 439, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Reciprocal Degradation of YME1L and OMA1 Adapts Mitochondrial Proteolytic Activity during Stress.", "journal": "Cell reports", "date": "2016", "authors": "Rainbolt TK, Lebeau J, Puchades C, Wiseman RL", "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" }, { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "26923599", "url": "https://glygen.org/publication/PubMed/26923599" } ] }, { "title": "Engineered AAA+ proteases reveal principles of proteolysis at the mitochondrial inner membrane.", "journal": "Nature communications", "date": "2016", "authors": "Shi H, Rampello AJ, Glynn SE", "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "27786171", "url": "https://glygen.org/publication/PubMed/27786171" } ] }, { "title": "Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.", "journal": "eLife", "date": "2016", "authors": "Hartmann B, Wai T, Hu H, MacVicar T, Musante L, Fischer-Zirnsak B, Stenzel W, Graf R, van den Heuvel L, Ropers HH, Wienker TF, Hubner C, Langer T, Kaindl AM", "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "reference": [ { "type": "PubMed", "id": "27495975", "url": "https://glygen.org/publication/PubMed/27495975" } ] } ], "crossref": [ { "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "26923599", "url": "https://glygen.org/publication/PubMed/26923599", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27786171", "url": "https://glygen.org/publication/PubMed/27786171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "27495975", "url": "https://glygen.org/publication/PubMed/27495975", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "RIRNLFREAKANAPCVIFID", "down_seq": "LDSVGGKRIESPMHPYSRQT", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Loss of ATPase and protease activity. Loss of PRELID1 degradation. Cannot restore OMA1 degradation in YME1L-depleted cells.", "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" }, { "database": "PubMed", "id": "26923599", "url": "https://glygen.org/publication/PubMed/26923599" }, { "database": "PubMed", "id": "27786171", "url": "https://glygen.org/publication/PubMed/27786171" }, { "database": "PubMed", "id": "27495975", "url": "https://glygen.org/publication/PubMed/27495975" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q96TA2-1.447.447", "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96TA2-1.600.600", "start_pos": 600, "end_pos": 600, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Reciprocal Degradation of YME1L and OMA1 Adapts Mitochondrial Proteolytic Activity during Stress.", "journal": "Cell reports", "date": "2016", "authors": "Rainbolt TK, Lebeau J, Puchades C, Wiseman RL", "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" }, { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "26923599", "url": "https://glygen.org/publication/PubMed/26923599" } ] }, { "title": "Lipid signalling drives proteolytic rewiring of mitochondria by YME1L.", "journal": "Nature", "date": "2019", "authors": "MacVicar T, Ohba Y, Nolte H, Mayer FC, Tatsuta T, Sprenger HG, Lindner B, Zhao Y, Li J, Bruns C, Kruger M, Habich M, Riemer J, Schwarzer R, Pasparakis M, Henschke S, Bruning JC, Zamboni N, Langer T", "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" }, { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "31695197", "url": "https://glygen.org/publication/PubMed/31695197" } ] } ], "crossref": [ { "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "26923599", "url": "https://glygen.org/publication/PubMed/26923599", "database": "PubMed", "categories": [ "Other" ] }, { "id": "31695197", "url": "https://glygen.org/publication/PubMed/31695197", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "GPERRSVEIDNKNKTITAYH", "down_seq": "SGHAIIAYYTKDAMPINKAT", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Loss of protease activity. Cannot restore OMA1 degradation in YME1L-depleted cells.", "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" }, { "database": "PubMed", "id": "26923599", "url": "https://glygen.org/publication/PubMed/26923599" }, { "database": "PubMed", "id": "31695197", "url": "https://glygen.org/publication/PubMed/31695197" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q96TA2-1.592.592", "categories": [ "glycosylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q96TA2-1.618.618", "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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96TA2-1.156.156", "start_pos": 156, "end_pos": 156, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96TA2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "ENLLPGFCKGKNISSHWHTS", "down_seq": "VSAQSFFENKYGNLDIFSTL", "snv": [ { "evidence": [ { "id": "Q96TA2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2" } ], "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 (HVS->NVS).", "chr_id": "10", "chr_pos": "27145464", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H156", "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": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q96TA2-1.155.155", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q96TA2-1.161.161", "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": "Q96TA2-1.177.177", "start_pos": 177, "end_pos": 177, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96TA2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VSAQSFFENKYGNLDIFSTL", "down_seq": "SSCLYRHHSRALQSICSDLQ", "snv": [ { "evidence": [ { "id": "Q96TA2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "27142459", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R177", "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: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": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q96TA2-1.161.161", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q96TA2-1.183.183", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96TA2-1.183.183", "start_pos": 183, "end_pos": 183, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96TA2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "FENKYGNLDIFSTLRSSCLY", "down_seq": "HHSRALQSICSDLQYWPVFI", "snv": [ { "evidence": [ { "id": "Q96TA2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "10", "chr_pos": "27142441", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R183", "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: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: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": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q96TA2-1.177.177", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96TA2-1.232.232", "start_pos": 232, "end_pos": 232, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96TA2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "KSRTRRLQSTSERLAETQNI", "down_seq": "PSFVKGFLLRDRGSDVESLD", "snv": [ { "evidence": [ { "id": "Q96TA2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NIA->NIT).", "chr_id": "10", "chr_pos": "27136293", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A232", "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": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q96TA2-1.220.220", "categories": [ "glycosylation_flag", "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q96TA2-1.222.222", "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": "Q96TA2-1.27.27", "start_pos": 27, "end_pos": 27, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1588617636", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1588617636", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1588617636", "url": "https://www.ensembl.org/id/rs1588617636", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TVQPQVTVPLSHLINAFHTP", "down_seq": "NTSVSLSGVSVSQNQHRDVV", "snv": [ { "evidence": [ { "id": "rs1588617636", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1588617636" }, { "id": "rs1588617636", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1588617636" } ], "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": "10", "chr_pos": "27148993", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K27", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q96TA2-1.28.28", "categories": [ "glycosylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q96TA2-1.30.30", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96TA2-1.30.30", "start_pos": 30, "end_pos": 30, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs376028435", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376028435", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs376028435", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376028435", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs376028435", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376028435#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs376028435", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376028435", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q96TA2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs773245726", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773245726", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773245726", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773245726", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773245726", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773245726#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs773245726", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773245726", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PQVTVPLSHLINAFHTPKNT", "down_seq": "VSLSGVSVSQNQHRDVVPEH", "snv": [ { "evidence": [ { "id": "rs376028435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376028435" }, { "id": "rs376028435", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376028435" }, { "id": "rs376028435", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376028435#frequency_tab" }, { "id": "rs376028435", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376028435" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NTS->NTA).", "chr_id": "10", "chr_pos": "27148986", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S30", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q96TA2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2" }, { "id": "rs773245726", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773245726" }, { "id": "rs773245726", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773245726" }, { "id": "rs773245726", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773245726#frequency_tab" }, { "id": "rs773245726", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773245726" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NTS->NTF).", "chr_id": "10", "chr_pos": "27148985", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S30", "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", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q96TA2-1.27.27", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q96TA2-1.28.28", "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": [ "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": "Q96TA2-1.447.447", "start_pos": 447, "end_pos": 447, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96TA2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AKANAPCVIFIDELDSVGGK", "down_seq": "IESPMHPYSRQTINQLLAEM", "snv": [ { "evidence": [ { "id": "Q96TA2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "27122907", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R447", "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: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": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q96TA2-1.439.439", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q96TA2-1.464.464", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96TA2-1.464.464", "start_pos": 464, "end_pos": 464, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96TA2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "GGKRIESPMHPYSRQTINQL", "down_seq": "AEMDGFKPNEGVIIIGATNF", "snv": [ { "evidence": [ { "id": "Q96TA2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "27122857", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L464", "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": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q96TA2-1.447.447", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96TA2-1.512.512", "start_pos": 512, "end_pos": 512, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96TA2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LIRPGRFDMQVTVPRPDVKG", "down_seq": "TEILKWYLNKIKFDQSVDPE", "snv": [ { "evidence": [ { "id": "Q96TA2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2" } ], "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": "10", "chr_pos": "27120482", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R512", "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": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "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": "Q96TA2-1.579.579", "start_pos": 579, "end_pos": 579, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96TA2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "VDGKEMVTMKELEFSKDKIL", "down_seq": "GPERRSVEIDNKNKTITAYH", "snv": [ { "evidence": [ { "id": "Q96TA2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "27119295", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M579", "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": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q96TA2-1.566.566", "categories": [ "glycosylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q96TA2-1.592.592", "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": "Q96TA2-1.618.618", "start_pos": 618, "end_pos": 618, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1472172524", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1472172524", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1472172524", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1472172524", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "YHESGHAIIAYYTKDAMPIN", "down_seq": "ATIMPRGPTLGHVSLLPEND", "snv": [ { "evidence": [ { "id": "rs1472172524", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1472172524" }, { "id": "rs1472172524", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1472172524" } ], "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": "10", "chr_pos": "27114575", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K618", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q96TA2-1.600.600", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q96TA2-1.638.638", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96TA2-1.638.638", "start_pos": 638, "end_pos": 638, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96TA2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KATIMPRGPTLGHVSLLPEN", "down_seq": "RWNETRAQLLAQMDVSMGGR", "snv": [ { "evidence": [ { "id": "Q96TA2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "27116323", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D638", "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": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q96TA2-1.618.618", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q96TA2-1.641.641", "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": "Q96TA2-1.704.704", "start_pos": 704, "end_pos": 704, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96TA2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IAKRMVTKFGMSEKLGVMTY", "down_seq": "DTGKLSPETQSAIEQEIRIL", "snv": [ { "evidence": [ { "id": "Q96TA2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (SDT->NDT).", "chr_id": "10", "chr_pos": "27114588", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S704", "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": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "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": "Q96TA2-1.747.747", "start_pos": 747, "end_pos": 747, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96TA2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1367928646", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1367928646", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1367928646", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1367928646", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1367928646", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1367928646", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "DSYERAKHILKTHAKEHKNL", "down_seq": "EALLTYETLDAKEIQIVLEG", "snv": [ { "evidence": [ { "id": "Q96TA2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96TA2" }, { "id": "rs1367928646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1367928646" }, { "id": "rs1367928646", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1367928646" }, { "id": "rs1367928646", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1367928646" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1704", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "10", "chr_pos": "27112060", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A747", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "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": "Q96TA2-1.270.270", "start_pos": 270, "end_pos": 270, "uniprot_canonical_ac": "Q96TA2-1", "length": 773, "uniprot_id": "YMEL1_HUMAN", "protein_name": "ATP-dependent zinc metalloprotease YME1L1", "refseq_ac": "NP_001240795", "refseq_name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4", "gene_name": "YME1L1", "gene_names_uniprotkb": "YME1L1; FTSH1; PRO4304; YME1L", "gene_names_refseq": "FTSH; MEG4; OPA11; PAMP; YME1L1; YME1L", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96TA2", "url": "https://www.uniprot.org/uniprotkb/Q96TA2" } ], "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": "Q96TA2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96TA2-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q96TA2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96TA2", "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": "SLDKLMKTKNIPEAHQDAFK", "down_seq": "GFAEGFLKAQALTQKTNDSL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q96TA2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96TA2" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr270" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "111", "end_pos": "111" }, { "start_pos": "115", "end_pos": "115" }, { "start_pos": "155", "end_pos": "155" }, { "start_pos": "161", "end_pos": "161" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "222", "end_pos": "222" }, { "start_pos": "28", "end_pos": "28" }, { "start_pos": "335", "end_pos": "335" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "592", "end_pos": "592" }, { "start_pos": "641", "end_pos": "641" }, { "start_pos": "680", "end_pos": "680" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "439", "end_pos": "439" }, { "start_pos": "600", "end_pos": "600" } ] }, { "type": "snv", "site_list": [ { "start_pos": "109", "end_pos": "109" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "177", "end_pos": "177" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "27", "end_pos": "27" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "447", "end_pos": "447" }, { "start_pos": "464", "end_pos": "464" }, { "start_pos": "512", "end_pos": "512" }, { "start_pos": "579", "end_pos": "579" }, { "start_pos": "618", "end_pos": "618" }, { "start_pos": "638", "end_pos": "638" }, { "start_pos": "704", "end_pos": "704" }, { "start_pos": "747", "end_pos": "747" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "220", "end_pos": "220" }, { "start_pos": "270", "end_pos": "270" } ] } ], "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": "Q9H6B1-1.132.132", "start_pos": 132, "end_pos": 132, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "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": "Q9H6B1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H6B1" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "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": "Q9H6B1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H6B1" }, { "database": "O-GlcNAc Atlas", "id": "Q9H6B1", "url": "https://oglcnac.org/atlas/detail/Q9H6B1" } ], "reference": [ { "type": "PubMed", "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654" } ] }, { "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": "Q9H6B1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H6B1" }, { "database": "O-GlcNAc Atlas", "id": "Q9H6B1", "url": "https://oglcnac.org/atlas/detail/Q9H6B1" } ], "reference": [ { "type": "PubMed", "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247" } ] } ], "crossref": [ { "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9H6B1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H6B1", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "28657654", "url": "https://glygen.org/publication/PubMed/28657654", "database": "PubMed", "categories": [ "Other" ] }, { "id": "39302247", "url": "https://glygen.org/publication/PubMed/39302247", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9H6B1", "url": "https://oglcnac.org/atlas/detail/Q9H6B1", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EAMKNKQKSVTAKDSAKTTF", "down_seq": "SITTNTINTSSDKTDGTAGT", "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": "Thr132", "evidence": [ { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "Q9H6B1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9H6B1" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "39302247", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39302247" }, { "id": "Q9H6B1", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q9H6B1" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9H6B1-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q9H6B1-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9H6B1-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9H6B1-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9H6B1-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9H6B1-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9H6B1-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9H6B1-1.147.147", "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9H6B1-1.102.102", "start_pos": 102, "end_pos": 102, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "CNICQLRFNSDSQAAAHYKG", "down_seq": "KHAKKLKALEAMKNKQKSVT", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "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": "3", "chr_pos": "21510995", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T102", "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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9H6B1-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9H6B1-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q9H6B1-1.114.114", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.113.113", "start_pos": 113, "end_pos": 113, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "SQAAAHYKGTKHAKKLKALE", "down_seq": "MKNKQKSVTAKDSAKTTFTS", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "21510962", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A113", "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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9H6B1-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9H6B1-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9H6B1-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9H6B1-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9H6B1-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9H6B1-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9H6B1-1.132.132", "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": "Q9H6B1-1.114.114", "start_pos": 114, "end_pos": 114, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "QAAAHYKGTKHAKKLKALEA", "down_seq": "KNKQKSVTAKDSAKTTFTSI", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "6", "frequency": "0.3", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "21510958", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "M114", "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: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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9H6B1-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9H6B1-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9H6B1-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9H6B1-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9H6B1-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9H6B1-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9H6B1-1.132.132", "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": "Q9H6B1-1.127.127", "start_pos": 127, "end_pos": 127, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "KLKALEAMKNKQKSVTAKDS", "down_seq": "KTTFTSITTNTINTSSDKTD", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "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 (3).", "chr_id": "3", "chr_pos": "21510921", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A127", "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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9H6B1-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q9H6B1-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9H6B1-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9H6B1-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9H6B1-1.132.132", "categories": [ "glycosylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9H6B1-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9H6B1-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9H6B1-1.147.147", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.128.128", "start_pos": 128, "end_pos": 128, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "LKALEAMKNKQKSVTAKDSA", "down_seq": "TTFTSITTNTINTSSDKTDG", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "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 (KTT->NTT).", "chr_id": "3", "chr_pos": "21510916", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K128", "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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9H6B1-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9H6B1-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9H6B1-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9H6B1-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9H6B1-1.132.132", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9H6B1-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9H6B1-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9H6B1-1.147.147", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.130.130", "start_pos": 130, "end_pos": 130, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ALEAMKNKQKSVTAKDSAKT", "down_seq": "FTSITTNTINTSSDKTDGTA", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "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 (TFT->NFT).", "chr_id": "3", "chr_pos": "21510911", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T130", "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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9H6B1-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9H6B1-1.114.114", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9H6B1-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9H6B1-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9H6B1-1.132.132", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9H6B1-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9H6B1-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9H6B1-1.147.147", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.136.136", "start_pos": 136, "end_pos": 136, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1191822607", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191822607", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1191822607", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1191822607", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "NKQKSVTAKDSAKTTFTSIT", "down_seq": "NTINTSSDKTDGTAGTPAIS", "snv": [ { "evidence": [ { "id": "rs1191822607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191822607" }, { "id": "rs1191822607", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1191822607" } ], "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": "3", "chr_pos": "21510893", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T136", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9H6B1-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9H6B1-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9H6B1-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9H6B1-1.132.132", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9H6B1-1.144.144", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9H6B1-1.147.147", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.144.144", "start_pos": 144, "end_pos": 144, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1237119822", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1237119822", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1237119822", "url": "https://www.ensembl.org/id/rs1237119822", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KDSAKTTFTSITTNTINTSS", "down_seq": "KTDGTAGTPAISTTTTVEIR", "snv": [ { "evidence": [ { "id": "rs1237119822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1237119822" }, { "id": "rs1237119822", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1237119822" } ], "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": "3", "chr_pos": "21510870", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D144", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9H6B1-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9H6B1-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q9H6B1-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q9H6B1-1.132.132", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9H6B1-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9H6B1-1.147.147", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.147.147", "start_pos": 147, "end_pos": 147, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs867797961", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867797961", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs867797961", "url": "https://www.ensembl.org/id/rs867797961", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "AKTTFTSITTNTINTSSDKT", "down_seq": "GTAGTPAISTTTTVEIRKSS", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" }, { "id": "rs867797961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867797961" }, { "id": "rs867797961", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867797961" } ], "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 (DGT->NGT).", "chr_id": "3", "chr_pos": "21510861", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D147", "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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9H6B1-1.127.127", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "downstream", "id": "Q9H6B1-1.128.128", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q9H6B1-1.130.130", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q9H6B1-1.132.132", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9H6B1-1.136.136", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9H6B1-1.144.144", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.188.188", "start_pos": 188, "end_pos": 188, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VMTTEITSKVEKSPTTATGN", "down_seq": "SCPSTETEEEKAKRLLYCSL", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "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 (SSC->NSC).", "chr_id": "3", "chr_pos": "21437080", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S188", "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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q9H6B1-1.207.207", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.207.207", "start_pos": 207, "end_pos": 207, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NSSCPSTETEEEKAKRLLYC", "down_seq": "LCKVAVNSASQLEAHNSGTK", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "3", "chr_pos": "21437023", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S207", "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: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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9H6B1-1.188.188", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.21.21", "start_pos": 21, "end_pos": 21, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MRNIMYFGGTCQSPALPALV", "down_seq": "PPAPPLQPSLDIKPFLPFPL", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "glycoeffect": [], "subjects_tested": "2617", "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": "21664989", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R21", "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: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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q9H6B1-1.30.30", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.234.234", "start_pos": 234, "end_pos": 234, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "NSASQLEAHNSGTKHKTMLE", "down_seq": "RNGSGTIKAFPRAGVKGKGP", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "21425644", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A234", "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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "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": "Q9H6B1-1.261.261", "start_pos": 261, "end_pos": 261, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1228494028", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228494028", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1228494028", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1228494028#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1228494028", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1228494028", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "IKAFPRAGVKGKGPVNKGNT", "down_seq": "LQNKTFHCEICDVHVNSETQ", "snv": [ { "evidence": [ { "id": "rs1228494028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228494028" }, { "id": "rs1228494028", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1228494028#frequency_tab" }, { "id": "rs1228494028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1228494028" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTG->NTC).", "chr_id": "3", "chr_pos": "21425563", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G261", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1228494028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1228494028" }, { "id": "rs1228494028", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1228494028#frequency_tab" }, { "id": "rs1228494028", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1228494028" } ], "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": "3", "chr_pos": "21425563", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G261", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "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": 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": "Q9H6B1-1.30.30", "start_pos": 30, "end_pos": 30, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "TCQSPALPALVRPPAPPLQP", "down_seq": "LDIKPFLPFPLDTAAAVNLF", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "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: num. of cancers (4).", "chr_id": "3", "chr_pos": "21664962", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S30", "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: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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9H6B1-1.21.21", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.339.339", "start_pos": 339, "end_pos": 339, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "VKLVFSKEPSKPLAPRILPN", "down_seq": "LAAAAAAAAVAVSSPFSLRT", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "21421386", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P339", "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: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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9H6B1-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9H6B1-1.358.358", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.342.342", "start_pos": 342, "end_pos": 342, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "VFSKEPSKPLAPRILPNPLA", "down_seq": "AAAAAAVAVSSPFSLRTAPA", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "3", "chr_pos": "21421378", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A342", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9H6B1-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9H6B1-1.358.358", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "Q9H6B1-1.358.358", "start_pos": 358, "end_pos": 358, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NPLAAAAAAAAVAVSSPFSL", "down_seq": "TAPAATLFQTSALPPALLRP", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "21421330", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R358", "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: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": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "7", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "21421329", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R358", "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": "glycosylation", "site_list": [ { "start_pos": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9H6B1-1.339.339", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q9H6B1-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q9H6B1-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q9H6B1-1.377.377", "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": 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": "Q9H6B1-1.373.373", "start_pos": 373, "end_pos": 373, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SPFSLRTAPAATLFQTSALP", "down_seq": "ALLRPAPGPIRTAHTPVLFA", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "3", "chr_pos": "21421284", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P373", "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: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": "glycosylation", "site_list": [ { "start_pos": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q9H6B1-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9H6B1-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q9H6B1-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9H6B1-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9H6B1-1.386.386", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.377.377", "start_pos": 377, "end_pos": 377, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LRTAPAATLFQTSALPPALL", "down_seq": "PAPGPIRTAHTPVLFAPY", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "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": "3", "chr_pos": "21421273", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R377", "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: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q9H6B1-1.358.358", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9H6B1-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9H6B1-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q9H6B1-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9H6B1-1.386.386", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.383.383", "start_pos": 383, "end_pos": 383, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs754506047", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754506047", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs754506047", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754506047", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs754506047", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754506047#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs754506047", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754506047", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "ATLFQTSALPPALLRPAPGP", "down_seq": "RTAHTPVLFAPY", "snv": [ { "evidence": [ { "id": "rs754506047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754506047" }, { "id": "rs754506047", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754506047" }, { "id": "rs754506047", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs754506047#frequency_tab" }, { "id": "rs754506047", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754506047" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IRT->NRT).", "chr_id": "3", "chr_pos": "21421254", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I383", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q9H6B1-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9H6B1-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9H6B1-1.384.384", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9H6B1-1.386.386", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.384.384", "start_pos": 384, "end_pos": 384, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TLFQTSALPPALLRPAPGPI", "down_seq": "TAHTPVLFAPY", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "21421251", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R384", "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: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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9H6B1-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q9H6B1-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9H6B1-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9H6B1-1.386.386", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.386.386", "start_pos": 386, "end_pos": 386, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "FQTSALPPALLRPAPGPIRT", "down_seq": "HTPVLFAPY", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "21421246", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A386", "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: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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9H6B1-1.373.373", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9H6B1-1.377.377", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9H6B1-1.383.383", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9H6B1-1.384.384", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.54.54", "start_pos": 54, "end_pos": 54, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs375357785", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375357785", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs375357785", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375357785", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs375357785", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375357785#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs375357785", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375357785", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "KPFLPFPLDTAAAVNLFPNF", "down_seq": "AMDPIQKAVINHTFGVPLPH", "snv": [ { "evidence": [ { "id": "rs375357785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375357785" }, { "id": "rs375357785", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375357785" }, { "id": "rs375357785", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs375357785#frequency_tab" }, { "id": "rs375357785", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375357785" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFN->NFS).", "chr_id": "3", "chr_pos": "21664890", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N54", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q9H6B1-1.62.62", "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": "Q9H6B1-1.62.62", "start_pos": 62, "end_pos": 62, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "DTAAAVNLFPNFNAMDPIQK", "down_seq": "VINHTFGVPLPHRRKQIISC", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "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": "21564665", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A62", "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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q9H6B1-1.54.54", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9H6B1-1.75.75", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H6B1-1.75.75", "start_pos": 75, "end_pos": 75, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AMDPIQKAVINHTFGVPLPH", "down_seq": "RKQIISCNICQLRFNSDSQA", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "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 (6).", "chr_id": "3", "chr_pos": "21564626", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R75", "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: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: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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9H6B1-1.62.62", "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": "Q9H6B1-1.96.96", "start_pos": 96, "end_pos": 96, "uniprot_canonical_ac": "Q9H6B1-1", "length": 395, "uniprot_id": "Z385D_HUMAN", "protein_name": "Zinc finger protein 385D", "refseq_ac": "NP_078973", "refseq_name": "zinc finger protein 385D", "gene_name": "ZNF385D", "gene_names_uniprotkb": "ZNF385D; ZNF659", "gene_names_refseq": "ZNF385D; ZNF659", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H6B1", "url": "https://www.uniprot.org/uniprotkb/Q9H6B1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H6B1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "RKQIISCNICQLRFNSDSQA", "down_seq": "AHYKGTKHAKKLKALEAMKN", "snv": [ { "evidence": [ { "id": "Q9H6B1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H6B1" } ], "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 (4).", "chr_id": "3", "chr_pos": "21511013", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A96", "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" } ] }, { "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": "132", "end_pos": "132" } ] }, { "type": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "113", "end_pos": "113" }, { "start_pos": "114", "end_pos": "114" }, { "start_pos": "127", "end_pos": "127" }, { "start_pos": "128", "end_pos": "128" }, { "start_pos": "130", "end_pos": "130" }, { "start_pos": "136", "end_pos": "136" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "188", "end_pos": "188" }, { "start_pos": "207", "end_pos": "207" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "261", "end_pos": "261" }, { "start_pos": "30", "end_pos": "30" }, { "start_pos": "339", "end_pos": "339" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "358", "end_pos": "358" }, { "start_pos": "373", "end_pos": "373" }, { "start_pos": "377", "end_pos": "377" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "386", "end_pos": "386" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "75", "end_pos": "75" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q9H6B1-1.102.102", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9H6B1-1.113.113", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9H6B1-1.114.114", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9UIJ5-1.154.155", "start_pos": 154, "end_pos": 155, "uniprot_canonical_ac": "Q9UIJ5-1", "length": 367, "uniprot_id": "ZDHC2_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC2", "refseq_ac": "NP_057437", "refseq_name": "palmitoyltransferase ZDHHC2 isoform 1", "gene_name": "ZDHHC2", "gene_names_uniprotkb": "ZDHHC2; REAM; REC; ZNF372", "gene_names_refseq": "DHHC2; ZDHHC2; ZNF372", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UIJ5", "url": "https://www.uniprot.org/uniprotkb/Q9UIJ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "DHHC2 affects palmitoylation, stability, and functions of tetraspanins CD9 and CD151.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Sharma C, Yang XH, Hemler ME", "evidence": [ { "database": "UniProtKB", "id": "Q9UIJ5", "url": "https://www.uniprot.org/uniprotkb/Q9UIJ5" }, { "database": "RefSeq", "id": "NP_057437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057437" } ], "reference": [ { "type": "PubMed", "id": "18508921", "url": "https://glygen.org/publication/PubMed/18508921" } ] } ], "crossref": [ { "id": "Q9UIJ5", "url": "https://www.uniprot.org/uniprotkb/Q9UIJ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18508921", "url": "https://glygen.org/publication/PubMed/18508921", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "DH", "start_aa": "D", "up_seq": "LIKPDRCHHCSVCDKCILKM", "down_seq": "HCPWVNNCVGFSNYKFFLLF", "mutagenesis": [ { "sequence_org": "DH", "sequence_mut": "AA", "comment": "Loss of protein-cysteine S-palmitoyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UIJ5", "url": "https://www.uniprot.org/uniprotkb/Q9UIJ5" }, { "database": "PubMed", "id": "18508921", "url": "https://glygen.org/publication/PubMed/18508921" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" } ] }, { "type": "snv", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "269", "end_pos": "269" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "341", "end_pos": "341" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9UIJ5-1.157.157", "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": "Q9UIJ5-1.157.157", "start_pos": 157, "end_pos": 157, "uniprot_canonical_ac": "Q9UIJ5-1", "length": 367, "uniprot_id": "ZDHC2_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC2", "refseq_ac": "NP_057437", "refseq_name": "palmitoyltransferase ZDHHC2 isoform 1", "gene_name": "ZDHHC2", "gene_names_uniprotkb": "ZDHHC2; REAM; REC; ZNF372", "gene_names_refseq": "DHHC2; ZDHHC2; ZNF372", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UIJ5", "url": "https://www.uniprot.org/uniprotkb/Q9UIJ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Oligomerization of DHHC protein S-acyltransferases.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Lai J, Linder ME", "evidence": [ { "database": "UniProtKB", "id": "Q9UIJ5", "url": "https://www.uniprot.org/uniprotkb/Q9UIJ5" } ], "reference": [ { "type": "PubMed", "id": "23793055", "url": "https://glygen.org/publication/PubMed/23793055" } ] }, { "title": "DHHC2 affects palmitoylation, stability, and functions of tetraspanins CD9 and CD151.", "journal": "Molecular biology of the cell", "date": "2008", "authors": "Sharma C, Yang XH, Hemler ME", "evidence": [ { "database": "UniProtKB", "id": "Q9UIJ5", "url": "https://www.uniprot.org/uniprotkb/Q9UIJ5" }, { "database": "RefSeq", "id": "NP_057437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057437" } ], "reference": [ { "type": "PubMed", "id": "18508921", "url": "https://glygen.org/publication/PubMed/18508921" } ] } ], "crossref": [ { "id": "Q9UIJ5", "url": "https://www.uniprot.org/uniprotkb/Q9UIJ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23793055", "url": "https://glygen.org/publication/PubMed/23793055", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18508921", "url": "https://glygen.org/publication/PubMed/18508921", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "PDRCHHCSVCDKCILKMDHH", "down_seq": "PWVNNCVGFSNYKFFLLFLA", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of protein-cysteine S-palmitoyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9UIJ5", "url": "https://www.uniprot.org/uniprotkb/Q9UIJ5" }, { "database": "PubMed", "id": "23793055", "url": "https://glygen.org/publication/PubMed/23793055" }, { "database": "PubMed", "id": "18508921", "url": "https://glygen.org/publication/PubMed/18508921" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" } ] }, { "type": "snv", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "269", "end_pos": "269" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "341", "end_pos": "341" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9UIJ5-1.154.155", "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": "Q9UIJ5-1.110.110", "start_pos": 110, "end_pos": 110, "uniprot_canonical_ac": "Q9UIJ5-1", "length": 367, "uniprot_id": "ZDHC2_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC2", "refseq_ac": "NP_057437", "refseq_name": "palmitoyltransferase ZDHHC2 isoform 1", "gene_name": "ZDHHC2", "gene_names_uniprotkb": "ZDHHC2; REAM; REC; ZNF372", "gene_names_refseq": "DHHC2; ZDHHC2; ZNF372", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UIJ5", "url": "https://www.uniprot.org/uniprotkb/Q9UIJ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UIJ5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UIJ5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "AEKDLLEREPRGEAHQEVLR", "down_seq": "AAKDLPIYTRTMSGAIRYCD", "snv": [ { "evidence": [ { "id": "Q9UIJ5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UIJ5" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "17195579", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R110", "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": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" } ] }, { "type": "snv", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "269", "end_pos": "269" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "341", "end_pos": "341" } ] } ], "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": "Q9UIJ5-1.269.269", "start_pos": 269, "end_pos": 269, "uniprot_canonical_ac": "Q9UIJ5-1", "length": 367, "uniprot_id": "ZDHC2_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC2", "refseq_ac": "NP_057437", "refseq_name": "palmitoyltransferase ZDHHC2 isoform 1", "gene_name": "ZDHHC2", "gene_names_uniprotkb": "ZDHHC2; REAM; REC; ZNF372", "gene_names_refseq": "DHHC2; ZDHHC2; ZNF372", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UIJ5", "url": "https://www.uniprot.org/uniprotkb/Q9UIJ5" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9UIJ5", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UIJ5", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "PVFRHGTDKNGFSLGFSKNM", "down_seq": "QVFGDEKKYWLLPIFSSLGD", "snv": [ { "evidence": [ { "id": "Q9UIJ5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UIJ5" } ], "glycoeffect": [], "subjects_tested": "320", "subjects_positive": "1", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "17210006", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R269", "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: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": "Q9UIJ5", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9UIJ5" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "17210007", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R269", "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: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": "154", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" } ] }, { "type": "snv", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "269", "end_pos": "269" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "341", "end_pos": "341" } ] } ], "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": "Q9UIJ5-1.341.341", "start_pos": 341, "end_pos": 341, "uniprot_canonical_ac": "Q9UIJ5-1", "length": 367, "uniprot_id": "ZDHC2_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC2", "refseq_ac": "NP_057437", "refseq_name": "palmitoyltransferase ZDHHC2 isoform 1", "gene_name": "ZDHHC2", "gene_names_uniprotkb": "ZDHHC2; REAM; REC; ZNF372", "gene_names_refseq": "DHHC2; ZDHHC2; ZNF372", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UIJ5", "url": "https://www.uniprot.org/uniprotkb/Q9UIJ5" } ], "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": "Q9UIJ5", "url": "https://www.uniprot.org/uniprotkb/Q9UIJ5" }, { "database": "iPTMnet", "id": "Q9UIJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UIJ5" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q9UIJ5", "url": "https://www.uniprot.org/uniprotkb/Q9UIJ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9UIJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UIJ5", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HQFPAKPLRESQSHLLTDSQ", "down_seq": "WTESSINPGKCKAGMSNPAL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9UIJ5", "url": "https://www.uniprot.org/uniprotkb/Q9UIJ5" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9UIJ5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9UIJ5" } ], "site_lbl": "Ser341" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "154", "end_pos": "155" }, { "start_pos": "157", "end_pos": "157" } ] }, { "type": "snv", "site_list": [ { "start_pos": "110", "end_pos": "110" }, { "start_pos": "269", "end_pos": "269" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "341", "end_pos": "341" } ] } ], "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": "Q6ZS27-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q6ZS27-1", "length": 426, "uniprot_id": "ZN662_HUMAN", "protein_name": "Zinc finger protein 662", "refseq_ac": "NP_001128128", "refseq_name": "zinc finger protein 662 isoform 2", "gene_name": "ZNF662", "gene_names_uniprotkb": "ZNF662", "gene_names_refseq": "ZNF662", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZS27", "url": "https://www.uniprot.org/uniprotkb/Q6ZS27" } ], "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": "Q6ZS27", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZS27" } ], "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": "Q6ZS27", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZS27", "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": "Q6ZS27", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZS27" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "292", "end_pos": "292" }, { "start_pos": "377", "end_pos": "377" } ] } ], "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": "Q6ZS27-1.292.292", "start_pos": 292, "end_pos": 292, "uniprot_canonical_ac": "Q6ZS27-1", "length": 426, "uniprot_id": "ZN662_HUMAN", "protein_name": "Zinc finger protein 662", "refseq_ac": "NP_001128128", "refseq_name": "zinc finger protein 662 isoform 2", "gene_name": "ZNF662", "gene_names_uniprotkb": "ZNF662", "gene_names_refseq": "ZNF662", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZS27", "url": "https://www.uniprot.org/uniprotkb/Q6ZS27" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZS27", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ZS27", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GEKPFECKECGKGFSQNTSL", "down_seq": "QHQRIHTGEKPYTCKECGKS", "snv": [ { "evidence": [ { "id": "Q6ZS27", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ZS27" } ], "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 (4).", "chr_id": "3", "chr_pos": "42914948", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T292", "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: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": "292", "end_pos": "292" }, { "start_pos": "377", "end_pos": "377" } ] } ], "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": "Q6ZS27-1.377.377", "start_pos": 377, "end_pos": 377, "uniprot_canonical_ac": "Q6ZS27-1", "length": 426, "uniprot_id": "ZN662_HUMAN", "protein_name": "Zinc finger protein 662", "refseq_ac": "NP_001128128", "refseq_name": "zinc finger protein 662 isoform 2", "gene_name": "ZNF662", "gene_names_uniprotkb": "ZNF662", "gene_names_refseq": "ZNF662", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZS27", "url": "https://www.uniprot.org/uniprotkb/Q6ZS27" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6ZS27", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ZS27", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DKPHECTDCGKSFFCKAHLI", "down_seq": "HQRIHTGERPYKCNDCGKAF", "snv": [ { "evidence": [ { "id": "Q6ZS27", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6ZS27" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "42915203", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R377", "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: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": "292", "end_pos": "292" }, { "start_pos": "377", "end_pos": "377" } ] } ], "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": "Q9NXF8-1.95.95", "start_pos": 95, "end_pos": 95, "uniprot_canonical_ac": "Q9NXF8-1", "length": 308, "uniprot_id": "ZDHC7_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC7", "refseq_ac": "NP_001139020", "refseq_name": "palmitoyltransferase ZDHHC7 isoform 1", "gene_name": "ZDHHC7", "gene_names_uniprotkb": "ZDHHC7", "gene_names_refseq": "DHHC7; SERZ-B; SERZ1; ZDHHC7; ZNF370", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NXF8", "url": "https://www.uniprot.org/uniprotkb/Q9NXF8" } ], "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": "Q9NXF8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NXF8" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NXF8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NXF8", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "rs2072492443", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2072492443", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2072492443", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2072492443#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q9NXF8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NXF8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DFWYSVVNGVIFNCLAVLAL", "down_seq": "SHLRTMLTDPGAVPKGNATK", "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": "Ser95", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q9NXF8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NXF8" } ] } ], "snv": [ { "evidence": [ { "id": "rs2072492443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2072492443" }, { "id": "rs2072492443", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2072492443#frequency_tab" } ], "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": "16", "chr_pos": "84990335", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S95", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NXF8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NXF8" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (S->P).", "chr_id": "16", "chr_pos": "84990336", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S95", "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": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "snv", "site_list": [ { "start_pos": "116", "end_pos": "116" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q9NXF8-1.96.96", "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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NXF8-1.96.96", "start_pos": 96, "end_pos": 96, "uniprot_canonical_ac": "Q9NXF8-1", "length": 308, "uniprot_id": "ZDHC7_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC7", "refseq_ac": "NP_001139020", "refseq_name": "palmitoyltransferase ZDHHC7 isoform 1", "gene_name": "ZDHHC7", "gene_names_uniprotkb": "ZDHHC7", "gene_names_refseq": "DHHC7; SERZ-B; SERZ1; ZDHHC7; ZNF370", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NXF8", "url": "https://www.uniprot.org/uniprotkb/Q9NXF8" } ], "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": "Q9NXF8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NXF8" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "crossref": [ { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NXF8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NXF8", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "rs1011852134", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1011852134", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1011852134", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1011852134#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1011852134", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1011852134", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs891764751", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs891764751", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs891764751", "url": "https://www.ncbi.nlm.nih.gov/snp/rs891764751#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs891764751", "url": "http://gnomad.broadinstitute.org/awesome?query=rs891764751", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q9NXF8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NXF8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "FWYSVVNGVIFNCLAVLALS", "down_seq": "HLRTMLTDPGAVPKGNATKE", "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": "Ser96", "evidence": [ { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q9NXF8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NXF8" } ] } ], "snv": [ { "evidence": [ { "id": "rs1011852134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1011852134" }, { "id": "rs1011852134", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1011852134#frequency_tab" }, { "id": "rs1011852134", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1011852134" } ], "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": "16", "chr_pos": "84990333", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S96", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs891764751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs891764751" }, { "id": "rs891764751", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs891764751#frequency_tab" }, { "id": "rs891764751", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs891764751" } ], "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": "16", "chr_pos": "84990332", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S96", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9NXF8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NXF8" } ], "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": "16", "chr_pos": "84990332", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S96", "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": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "snv", "site_list": [ { "start_pos": "116", "end_pos": "116" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9NXF8-1.95.95", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9NXF8-1.116.116", "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": 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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NXF8-1.116.116", "start_pos": 116, "end_pos": 116, "uniprot_canonical_ac": "Q9NXF8-1", "length": 308, "uniprot_id": "ZDHC7_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC7", "refseq_ac": "NP_001139020", "refseq_name": "palmitoyltransferase ZDHHC7 isoform 1", "gene_name": "ZDHHC7", "gene_names_uniprotkb": "ZDHHC7", "gene_names_refseq": "DHHC7; SERZ-B; SERZ1; ZDHHC7; ZNF370", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NXF8", "url": "https://www.uniprot.org/uniprotkb/Q9NXF8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NXF8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NXF8", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SHLRTMLTDPGAVPKGNATK", "down_seq": "YMESLQLKPGEVIYKCPKCC", "snv": [ { "evidence": [ { "id": "Q9NXF8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NXF8" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "84981964", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E116", "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": "glycosylation", "site_list": [ { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "snv", "site_list": [ { "start_pos": "116", "end_pos": "116" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9NXF8-1.96.96", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9NXF8-1.134.134", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NXF8-1.134.134", "start_pos": 134, "end_pos": 134, "uniprot_canonical_ac": "Q9NXF8-1", "length": 308, "uniprot_id": "ZDHC7_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC7", "refseq_ac": "NP_001139020", "refseq_name": "palmitoyltransferase ZDHHC7 isoform 1", "gene_name": "ZDHHC7", "gene_names_uniprotkb": "ZDHHC7", "gene_names_refseq": "DHHC7; SERZ-B; SERZ1; ZDHHC7; ZNF370", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NXF8", "url": "https://www.uniprot.org/uniprotkb/Q9NXF8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1417740770", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1417740770", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1417740770", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1417740770", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TKEYMESLQLKPGEVIYKCP", "down_seq": "CCCIKPERAHHCSICKRCIR", "snv": [ { "evidence": [ { "id": "rs1417740770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1417740770" }, { "id": "rs1417740770", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1417740770" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KCC->NCC).", "chr_id": "16", "chr_pos": "84981908", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K134", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "snv", "site_list": [ { "start_pos": "116", "end_pos": "116" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9NXF8-1.116.116", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NXF8-1.147.147", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NXF8-1.147.147", "start_pos": 147, "end_pos": 147, "uniprot_canonical_ac": "Q9NXF8-1", "length": 308, "uniprot_id": "ZDHC7_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC7", "refseq_ac": "NP_001139020", "refseq_name": "palmitoyltransferase ZDHHC7 isoform 1", "gene_name": "ZDHHC7", "gene_names_uniprotkb": "ZDHHC7", "gene_names_refseq": "DHHC7; SERZ-B; SERZ1; ZDHHC7; ZNF370", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NXF8", "url": "https://www.uniprot.org/uniprotkb/Q9NXF8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1402957220", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402957220", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1402957220", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402957220", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EVIYKCPKCCCIKPERAHHC", "down_seq": "ICKRCIRKMDHHCPWVNNCV", "snv": [ { "evidence": [ { "id": "rs1402957220", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402957220" }, { "id": "rs1402957220", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1402957220" } ], "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 (SIC->NIC).", "chr_id": "16", "chr_pos": "84981870", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S147", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "snv", "site_list": [ { "start_pos": "116", "end_pos": "116" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9NXF8-1.134.134", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NXF8-1.210.210", "start_pos": 210, "end_pos": 210, "uniprot_canonical_ac": "Q9NXF8-1", "length": 308, "uniprot_id": "ZDHC7_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC7", "refseq_ac": "NP_001139020", "refseq_name": "palmitoyltransferase ZDHHC7 isoform 1", "gene_name": "ZDHHC7", "gene_names_uniprotkb": "ZDHHC7", "gene_names_refseq": "DHHC7; SERZ-B; SERZ1; ZDHHC7; ZNF370", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NXF8", "url": "https://www.uniprot.org/uniprotkb/Q9NXF8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NXF8", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NXF8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs745556808", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745556808", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs745556808", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745556808", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs745556808", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745556808#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs745556808", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745556808", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LILCGFQFISCVRGQWTECS", "down_seq": "FSPPITVILLIFLCLEGLLF", "snv": [ { "evidence": [ { "id": "Q9NXF8", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NXF8" }, { "id": "rs745556808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745556808" }, { "id": "rs745556808", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745556808" }, { "id": "rs745556808", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745556808#frequency_tab" }, { "id": "rs745556808", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745556808" } ], "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 (DFS->NFS).", "chr_id": "16", "chr_pos": "84977217", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D210", "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", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "snv", "site_list": [ { "start_pos": "116", "end_pos": "116" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "95", "end_pos": "95" }, { "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": "Q9NXF8-1.22.22", "start_pos": 22, "end_pos": 22, "uniprot_canonical_ac": "Q9NXF8-1", "length": 308, "uniprot_id": "ZDHC7_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC7", "refseq_ac": "NP_001139020", "refseq_name": "palmitoyltransferase ZDHHC7 isoform 1", "gene_name": "ZDHHC7", "gene_names_uniprotkb": "ZDHHC7", "gene_names_refseq": "DHHC7; SERZ-B; SERZ1; ZDHHC7; ZNF370", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NXF8", "url": "https://www.uniprot.org/uniprotkb/Q9NXF8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1305495852", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1305495852", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1305495852", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1305495852#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1305495852", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1305495852", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QPSGHRLRDVEHHPLLAEND", "down_seq": "YDSSSSSSSEADVADRVWFI", "snv": [ { "evidence": [ { "id": "rs1305495852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1305495852" }, { "id": "rs1305495852", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1305495852#frequency_tab" }, { "id": "rs1305495852", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1305495852" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDN->NDS).", "chr_id": "16", "chr_pos": "84990554", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N22", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "snv", "site_list": [ { "start_pos": "116", "end_pos": "116" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q9NXF8-1.23.23", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NXF8-1.23.23", "start_pos": 23, "end_pos": 23, "uniprot_canonical_ac": "Q9NXF8-1", "length": 308, "uniprot_id": "ZDHC7_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC7", "refseq_ac": "NP_001139020", "refseq_name": "palmitoyltransferase ZDHHC7 isoform 1", "gene_name": "ZDHHC7", "gene_names_uniprotkb": "ZDHHC7", "gene_names_refseq": "DHHC7; SERZ-B; SERZ1; ZDHHC7; ZNF370", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NXF8", "url": "https://www.uniprot.org/uniprotkb/Q9NXF8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1231455148", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1231455148", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1231455148", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1231455148", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "PSGHRLRDVEHHPLLAENDN", "down_seq": "DSSSSSSSEADVADRVWFIR", "snv": [ { "evidence": [ { "id": "rs1231455148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1231455148" }, { "id": "rs1231455148", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1231455148" } ], "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 (YDS->NDS).", "chr_id": "16", "chr_pos": "84990552", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y23", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "snv", "site_list": [ { "start_pos": "116", "end_pos": "116" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9NXF8-1.22.22", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NXF8-1.248.248", "start_pos": 248, "end_pos": 248, "uniprot_canonical_ac": "Q9NXF8-1", "length": 308, "uniprot_id": "ZDHC7_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC7", "refseq_ac": "NP_001139020", "refseq_name": "palmitoyltransferase ZDHHC7 isoform 1", "gene_name": "ZDHHC7", "gene_names_uniprotkb": "ZDHHC7", "gene_names_refseq": "DHHC7; SERZ-B; SERZ1; ZDHHC7; ZNF370", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NXF8", "url": "https://www.uniprot.org/uniprotkb/Q9NXF8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1384204227", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384204227", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1384204227", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1384204227#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1384204227", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1384204227", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1384204227", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1384204227", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LLFFTFTAVMFGTQIHSICN", "down_seq": "ETEIERLKSEKPTWERRLRW", "snv": [ { "evidence": [ { "id": "rs1384204227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384204227" }, { "id": "rs1384204227", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1384204227#frequency_tab" }, { "id": "rs1384204227", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1384204227" }, { "id": "rs1384204227", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1384204227" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (DET->NET).", "chr_id": "16", "chr_pos": "84977103", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D248", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "95", "end_pos": "95" }, { "start_pos": "96", "end_pos": "96" } ] }, { "type": "snv", "site_list": [ { "start_pos": "116", "end_pos": "116" }, { "start_pos": "134", "end_pos": "134" }, { "start_pos": "147", "end_pos": "147" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "23", "end_pos": "23" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "95", "end_pos": "95" }, { "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": "Q9H8X9-1.152.153", "start_pos": 152, "end_pos": 153, "uniprot_canonical_ac": "Q9H8X9-1", "length": 412, "uniprot_id": "ZDH11_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC11", "refseq_ac": "NP_079062", "refseq_name": "palmitoyltransferase ZDHHC11 isoform 2", "gene_name": "ZDHHC11", "gene_names_uniprotkb": "ZDHHC11; ZNF399", "gene_names_refseq": "ZDHHC11; ZNF399", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ZDHHC11 and ZDHHC11B are critical novel components of the oncogenic MYC-miR-150-MYB network in Burkitt lymphoma.", "journal": "Leukemia", "date": "2017", "authors": "Dzikiewicz-Krawczyk A, Kok K, Slezak-Prochazka I, Robertus JL, Bruining J, Tayari MM, Rutgers B, de Jong D, Koerts J, Seitz A, Li J, Tillema B, Guikema JE, Nolte IM, Diepstra A, Visser L, Kluiver J, van den Berg A", "evidence": [ { "database": "UniProtKB", "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9" }, { "database": "RefSeq", "id": "NP_079062", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079062" } ], "reference": [ { "type": "PubMed", "id": "28331227", "url": "https://glygen.org/publication/PubMed/28331227" } ] } ], "crossref": [ { "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "28331227", "url": "https://glygen.org/publication/PubMed/28331227", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "DH", "start_aa": "D", "up_seq": "VTVNKKTKHCISCNKCVSGF", "down_seq": "HCKWINNCVGSRNYWFFFST", "mutagenesis": [ { "sequence_org": "DH", "sequence_mut": "AA", "comment": "No effect on the regulation of STING1-mediated innate immune response.", "evidence": [ { "database": "UniProtKB", "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9" }, { "database": "PubMed", "id": "28331227", "url": "https://glygen.org/publication/PubMed/28331227" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "152", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" } ] }, { "type": "snv", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "86", "end_pos": "86" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q9H8X9-1.155.155", "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": "Q9H8X9-1.155.155", "start_pos": 155, "end_pos": 155, "uniprot_canonical_ac": "Q9H8X9-1", "length": 412, "uniprot_id": "ZDH11_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC11", "refseq_ac": "NP_079062", "refseq_name": "palmitoyltransferase ZDHHC11 isoform 2", "gene_name": "ZDHHC11", "gene_names_uniprotkb": "ZDHHC11; ZNF399", "gene_names_refseq": "ZDHHC11; ZNF399", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "ZDHHC11 and ZDHHC11B are critical novel components of the oncogenic MYC-miR-150-MYB network in Burkitt lymphoma.", "journal": "Leukemia", "date": "2017", "authors": "Dzikiewicz-Krawczyk A, Kok K, Slezak-Prochazka I, Robertus JL, Bruining J, Tayari MM, Rutgers B, de Jong D, Koerts J, Seitz A, Li J, Tillema B, Guikema JE, Nolte IM, Diepstra A, Visser L, Kluiver J, van den Berg A", "evidence": [ { "database": "UniProtKB", "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9" }, { "database": "RefSeq", "id": "NP_079062", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079062" } ], "reference": [ { "type": "PubMed", "id": "28331227", "url": "https://glygen.org/publication/PubMed/28331227" } ] } ], "crossref": [ { "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "28331227", "url": "https://glygen.org/publication/PubMed/28331227", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "NKKTKHCISCNKCVSGFDHH", "down_seq": "KWINNCVGSRNYWFFFSTVA", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No effect on the regulation of STING1-mediated innate immune response.", "evidence": [ { "database": "UniProtKB", "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9" }, { "database": "PubMed", "id": "28331227", "url": "https://glygen.org/publication/PubMed/28331227" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "152", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" } ] }, { "type": "snv", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "86", "end_pos": "86" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9H8X9-1.152.153", "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": "Q9H8X9-1.216.216", "start_pos": 216, "end_pos": 216, "uniprot_canonical_ac": "Q9H8X9-1", "length": 412, "uniprot_id": "ZDH11_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC11", "refseq_ac": "NP_079062", "refseq_name": "palmitoyltransferase ZDHHC11 isoform 2", "gene_name": "ZDHHC11", "gene_names_uniprotkb": "ZDHHC11; ZNF399", "gene_names_refseq": "ZDHHC11; ZNF399", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H8X9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LVNPGVLRTDPRYEDVKNMN", "down_seq": "WLLFLPLFPVQVQTLIVVII", "snv": [ { "evidence": [ { "id": "Q9H8X9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "840632", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T216", "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": "mutagenesis", "site_list": [ { "start_pos": "152", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" } ] }, { "type": "snv", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "86", "end_pos": "86" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q9H8X9-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q9H8X9-1.234.234", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H8X9-1.225.225", "start_pos": 225, "end_pos": 225, "uniprot_canonical_ac": "Q9H8X9-1", "length": 412, "uniprot_id": "ZDH11_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC11", "refseq_ac": "NP_079062", "refseq_name": "palmitoyltransferase ZDHHC11 isoform 2", "gene_name": "ZDHHC11", "gene_names_uniprotkb": "ZDHHC11; ZNF399", "gene_names_refseq": "ZDHHC11; ZNF399", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H8X9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "DPRYEDVKNMNTWLLFLPLF", "down_seq": "VQVQTLIVVIIGMLVLLLDF", "snv": [ { "evidence": [ { "id": "Q9H8X9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "840605", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P225", "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": "mutagenesis", "site_list": [ { "start_pos": "152", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" } ] }, { "type": "snv", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "86", "end_pos": "86" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9H8X9-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9H8X9-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9H8X9-1.245.245", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H8X9-1.234.234", "start_pos": 234, "end_pos": 234, "uniprot_canonical_ac": "Q9H8X9-1", "length": 412, "uniprot_id": "ZDH11_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC11", "refseq_ac": "NP_079062", "refseq_name": "palmitoyltransferase ZDHHC11 isoform 2", "gene_name": "ZDHHC11", "gene_names_uniprotkb": "ZDHHC11; ZNF399", "gene_names_refseq": "ZDHHC11; ZNF399", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H8X9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "MNTWLLFLPLFPVQVQTLIV", "down_seq": "IIGMLVLLLDFLGLVHLGQL", "snv": [ { "evidence": [ { "id": "Q9H8X9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "840579", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V234", "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: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": "152", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" } ] }, { "type": "snv", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "86", "end_pos": "86" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q9H8X9-1.216.216", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q9H8X9-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9H8X9-1.245.245", "categories": [ "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9H8X9-1.250.250", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H8X9-1.245.245", "start_pos": 245, "end_pos": 245, "uniprot_canonical_ac": "Q9H8X9-1", "length": 412, "uniprot_id": "ZDH11_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC11", "refseq_ac": "NP_079062", "refseq_name": "palmitoyltransferase ZDHHC11 isoform 2", "gene_name": "ZDHHC11", "gene_names_uniprotkb": "ZDHHC11; ZNF399", "gene_names_refseq": "ZDHHC11; ZNF399", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H8X9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "PVQVQTLIVVIIGMLVLLLD", "down_seq": "LGLVHLGQLLIFHIYLKAKK", "snv": [ { "evidence": [ { "id": "Q9H8X9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "5", "chr_pos": "840546", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "F245", "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: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" } ] }, { "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": "152", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" } ] }, { "type": "snv", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "86", "end_pos": "86" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9H8X9-1.225.225", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q9H8X9-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9H8X9-1.250.250", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H8X9-1.250.250", "start_pos": 250, "end_pos": 250, "uniprot_canonical_ac": "Q9H8X9-1", "length": 412, "uniprot_id": "ZDH11_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC11", "refseq_ac": "NP_079062", "refseq_name": "palmitoyltransferase ZDHHC11 isoform 2", "gene_name": "ZDHHC11", "gene_names_uniprotkb": "ZDHHC11; ZNF399", "gene_names_refseq": "ZDHHC11; ZNF399", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H8X9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "TLIVVIIGMLVLLLDFLGLV", "down_seq": "LGQLLIFHIYLKAKKMTTFE", "snv": [ { "evidence": [ { "id": "Q9H8X9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "H", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "5", "chr_pos": "840529", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "H250", "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: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: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" } ] }, { "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": "152", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" } ] }, { "type": "snv", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "86", "end_pos": "86" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9H8X9-1.234.234", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q9H8X9-1.245.245", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H8X9-1.275.275", "start_pos": 275, "end_pos": 275, "uniprot_canonical_ac": "Q9H8X9-1", "length": 412, "uniprot_id": "ZDH11_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC11", "refseq_ac": "NP_079062", "refseq_name": "palmitoyltransferase ZDHHC11 isoform 2", "gene_name": "ZDHHC11", "gene_names_uniprotkb": "ZDHHC11; ZNF399", "gene_names_refseq": "ZDHHC11; ZNF399", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H8X9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "LIFHIYLKAKKMTTFEYLIN", "down_seq": "RKEESSKHQAVRKDPYVQMD", "snv": [ { "evidence": [ { "id": "Q9H8X9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "837441", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N275", "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: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": "152", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" } ] }, { "type": "snv", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "86", "end_pos": "86" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q9H8X9-1.279.279", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H8X9-1.279.279", "start_pos": 279, "end_pos": 279, "uniprot_canonical_ac": "Q9H8X9-1", "length": 412, "uniprot_id": "ZDH11_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC11", "refseq_ac": "NP_079062", "refseq_name": "palmitoyltransferase ZDHHC11 isoform 2", "gene_name": "ZDHHC11", "gene_names_uniprotkb": "ZDHHC11; ZNF399", "gene_names_refseq": "ZDHHC11; ZNF399", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H8X9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "IYLKAKKMTTFEYLINNRKE", "down_seq": "SSKHQAVRKDPYVQMDKGVL", "snv": [ { "evidence": [ { "id": "Q9H8X9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "837428", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E279", "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: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": "mutagenesis", "site_list": [ { "start_pos": "152", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" } ] }, { "type": "snv", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "86", "end_pos": "86" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q9H8X9-1.275.275", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H8X9-1.341.341", "start_pos": 341, "end_pos": 341, "uniprot_canonical_ac": "Q9H8X9-1", "length": 412, "uniprot_id": "ZDH11_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC11", "refseq_ac": "NP_079062", "refseq_name": "palmitoyltransferase ZDHHC11 isoform 2", "gene_name": "ZDHHC11", "gene_names_uniprotkb": "ZDHHC11; ZNF399", "gene_names_refseq": "ZDHHC11; ZNF399", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H8X9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "IHKHLCHFCTSVNQDGDSTA", "down_seq": "EGDEDPCPSALGAKARNSRL", "snv": [ { "evidence": [ { "id": "Q9H8X9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9" } ], "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 (3).", "chr_id": "5", "chr_pos": "825165", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R341", "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": "152", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" } ] }, { "type": "snv", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "86", "end_pos": "86" } ] } ], "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": "Q9H8X9-1.403.403", "start_pos": 403, "end_pos": 403, "uniprot_canonical_ac": "Q9H8X9-1", "length": 412, "uniprot_id": "ZDH11_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC11", "refseq_ac": "NP_079062", "refseq_name": "palmitoyltransferase ZDHHC11 isoform 2", "gene_name": "ZDHHC11", "gene_names_uniprotkb": "ZDHHC11; ZNF399", "gene_names_refseq": "ZDHHC11; ZNF399", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H8X9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "EADDAPSISTLGLQQETTEP", "down_seq": "KTDSAESED", "snv": [ { "evidence": [ { "id": "Q9H8X9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9" } ], "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": "5", "chr_pos": "801137", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "M403", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "152", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" } ] }, { "type": "snv", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "86", "end_pos": "86" } ] } ], "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": "Q9H8X9-1.54.54", "start_pos": 54, "end_pos": 54, "uniprot_canonical_ac": "Q9H8X9-1", "length": 412, "uniprot_id": "ZDH11_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC11", "refseq_ac": "NP_079062", "refseq_name": "palmitoyltransferase ZDHHC11 isoform 2", "gene_name": "ZDHHC11", "gene_names_uniprotkb": "ZDHHC11; ZNF399", "gene_names_refseq": "ZDHHC11; ZNF399", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H8X9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "WSLPLHYFQVVTWAVFVGLS", "down_seq": "ATFGIFIPFLPHAWKYIAYV", "snv": [ { "evidence": [ { "id": "Q9H8X9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "850442", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S54", "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: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: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": "152", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" } ] }, { "type": "snv", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "86", "end_pos": "86" } ] } ], "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": "Q9H8X9-1.86.86", "start_pos": 86, "end_pos": 86, "uniprot_canonical_ac": "Q9H8X9-1", "length": 412, "uniprot_id": "ZDH11_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC11", "refseq_ac": "NP_079062", "refseq_name": "palmitoyltransferase ZDHHC11 isoform 2", "gene_name": "ZDHHC11", "gene_names_uniprotkb": "ZDHHC11; ZNF399", "gene_names_refseq": "ZDHHC11; ZNF399", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H8X9", "url": "https://www.uniprot.org/uniprotkb/Q9H8X9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H8X9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "HAWKYIAYVVTGGIFSFHLV", "down_seq": "HLIASCIDPADSNVRLMKNY", "snv": [ { "evidence": [ { "id": "Q9H8X9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H8X9" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "848627", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V86", "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: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "152", "end_pos": "153" }, { "start_pos": "155", "end_pos": "155" } ] }, { "type": "snv", "site_list": [ { "start_pos": "216", "end_pos": "216" }, { "start_pos": "225", "end_pos": "225" }, { "start_pos": "234", "end_pos": "234" }, { "start_pos": "245", "end_pos": "245" }, { "start_pos": "250", "end_pos": "250" }, { "start_pos": "275", "end_pos": "275" }, { "start_pos": "279", "end_pos": "279" }, { "start_pos": "341", "end_pos": "341" }, { "start_pos": "403", "end_pos": "403" }, { "start_pos": "54", "end_pos": "54" }, { "start_pos": "86", "end_pos": "86" } ] } ], "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": "Q6NXT4-1.367.367", "start_pos": 367, "end_pos": 367, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "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": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" }, { "database": "O-GlcNAc Atlas", "id": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" } ], "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": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" }, { "database": "O-GlcNAc Atlas", "id": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "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": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" }, { "database": "O-GlcNAc Atlas", "id": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "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": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260" } ] } ], "crossref": [ { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "37541260", "url": "https://glygen.org/publication/PubMed/37541260", "database": "PubMed", "categories": [ "Other" ] }, { "id": "rs372351330", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372351330", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs372351330", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs372351330", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs372351330", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372351330", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs372351330", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372351330#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs372351330", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372351330", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs149327471", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149327471", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs149327471", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149327471", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs149327471", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149327471#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs149327471", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149327471", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "AANVLNFSDHHVIPMPLLKG", "down_seq": "DDLNPVTSTPAKPSSPPPEF", "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": "Thr367", "evidence": [ { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "Q6NXT4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "Q6NXT4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" }, { "id": "37541260", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37541260" } ] } ], "snv": [ { "evidence": [ { "id": "rs372351330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372351330" }, { "id": "rs372351330", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs372351330" }, { "id": "rs372351330", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372351330" }, { "id": "rs372351330", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372351330#frequency_tab" }, { "id": "rs372351330", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372351330" } ], "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": "32220426", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "T367", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs149327471", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149327471" }, { "id": "rs149327471", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149327471" }, { "id": "rs149327471", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149327471#frequency_tab" }, { "id": "rs149327471", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149327471" } ], "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": "2", "chr_pos": "32220427", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T367", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q6NXT4-1.365.365", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q6NXT4-1.374.374", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6NXT4-1.375.375", "categories": [ "glycosylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q6NXT4-1.376.376", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q6NXT4-1.381.381", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q6NXT4-1.382.382", "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": 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": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6NXT4-1.374.374", "start_pos": 374, "end_pos": 374, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "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": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" }, { "database": "O-GlcNAc Atlas", "id": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" } ], "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": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" }, { "database": "O-GlcNAc Atlas", "id": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "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": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" }, { "database": "O-GlcNAc Atlas", "id": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "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": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] } ], "crossref": [ { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1297231814", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1297231814", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1297231814", "url": "https://www.ensembl.org/id/rs1297231814", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SDHHVIPMPLLKGTDDLNPV", "down_seq": "STPAKPSSPPPEFSFNTPGK", "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": "Thr374", "evidence": [ { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "Q6NXT4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" }, { "id": "Q6NXT4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" } ] } ], "snv": [ { "evidence": [ { "id": "rs1297231814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1297231814" }, { "id": "rs1297231814", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1297231814" } ], "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": "32220448", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T374", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q6NXT4-1.365.365", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q6NXT4-1.367.367", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q6NXT4-1.375.375", "categories": [ "glycosylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6NXT4-1.376.376", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q6NXT4-1.381.381", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6NXT4-1.382.382", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q6NXT4-1.391.391", "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": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6NXT4-1.375.375", "start_pos": 375, "end_pos": 375, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "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": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" }, { "database": "O-GlcNAc Atlas", "id": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" } ], "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": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" }, { "database": "O-GlcNAc Atlas", "id": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "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": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" }, { "database": "O-GlcNAc Atlas", "id": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] } ], "crossref": [ { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DHHVIPMPLLKGTDDLNPVT", "down_seq": "TPAKPSSPPPEFSFNTPGKN", "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": "Ser375", "evidence": [ { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "Q6NXT4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "Q6NXT4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q6NXT4-1.365.365", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q6NXT4-1.367.367", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q6NXT4-1.374.374", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q6NXT4-1.376.376", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q6NXT4-1.381.381", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q6NXT4-1.382.382", "categories": [ "phosphorylation_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q6NXT4-1.391.391", "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", "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": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6NXT4-1.376.376", "start_pos": 376, "end_pos": 376, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "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": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" }, { "database": "O-GlcNAc Atlas", "id": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" } ], "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": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" }, { "database": "O-GlcNAc Atlas", "id": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] }, { "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": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" }, { "database": "O-GlcNAc Atlas", "id": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] } ], "crossref": [ { "id": "39531497", "url": "https://glygen.org/publication/PubMed/39531497", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6NXT4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6NXT4", "url": "https://oglcnac.org/atlas/detail/Q6NXT4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs1686072045", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1686072045", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1686072045", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1686072045", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "HHVIPMPLLKGTDDLNPVTS", "down_seq": "PAKPSSPPPEFSFNTPGKNV", "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": "Thr376", "evidence": [ { "id": "39531497", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39531497" }, { "id": "Q6NXT4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6NXT4" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "Q6NXT4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6NXT4" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Thr", "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr376", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1686072045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1686072045" }, { "id": "rs1686072045", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1686072045" } ], "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": "32220453", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T376", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q6NXT4-1.365.365", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q6NXT4-1.367.367", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q6NXT4-1.374.374", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q6NXT4-1.375.375", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q6NXT4-1.381.381", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q6NXT4-1.382.382", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q6NXT4-1.391.391", "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": 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": 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": 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": 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": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6NXT4-1.201.201", "start_pos": 201, "end_pos": 201, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Demonstration and characterization of the heterodimerization of ZnT5 and ZnT6 in the early secretory pathway.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Fukunaka A, Suzuki T, Kurokawa Y, Yamazaki T, Fujiwara N, Ishihara K, Migaki H, Okumura K, Masuda S, Yamaguchi-Iwai Y, Nagao M, Kambe T", "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "19759014", "url": "https://glygen.org/publication/PubMed/19759014" } ] } ], "crossref": [ { "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19759014", "url": "https://glygen.org/publication/PubMed/19759014", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "RSLCGIIPGLSSIFLPRMNP", "down_seq": "VLIDLAGAFALCITYMLIEI", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "H", "comment": "No effect on heterodimer formation with SLC30A5 and no effect on zinc transport; when associated with H-66.", "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" }, { "database": "PubMed", "id": "19759014", "url": "https://glygen.org/publication/PubMed/19759014" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q6NXT4-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q6NXT4-1.205.205", "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": "Q6NXT4-1.205.205", "start_pos": 205, "end_pos": 205, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Demonstration and characterization of the heterodimerization of ZnT5 and ZnT6 in the early secretory pathway.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Fukunaka A, Suzuki T, Kurokawa Y, Yamazaki T, Fujiwara N, Ishihara K, Migaki H, Okumura K, Masuda S, Yamaguchi-Iwai Y, Nagao M, Kambe T", "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "19759014", "url": "https://glygen.org/publication/PubMed/19759014" } ] } ], "crossref": [ { "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19759014", "url": "https://glygen.org/publication/PubMed/19759014", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "GIIPGLSSIFLPRMNPFVLI", "down_seq": "LAGAFALCITYMLIEINNYF", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "No effect on heterodimer formation with SLC30A5 and no effect on zinc transport; when associated with A-70.", "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" }, { "database": "PubMed", "id": "19759014", "url": "https://glygen.org/publication/PubMed/19759014" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q6NXT4-1.197.197", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q6NXT4-1.201.201", "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": "Q6NXT4-1.66.66", "start_pos": 66, "end_pos": 66, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Demonstration and characterization of the heterodimerization of ZnT5 and ZnT6 in the early secretory pathway.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Fukunaka A, Suzuki T, Kurokawa Y, Yamazaki T, Fujiwara N, Ishihara K, Migaki H, Okumura K, Masuda S, Yamaguchi-Iwai Y, Nagao M, Kambe T", "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "19759014", "url": "https://glygen.org/publication/PubMed/19759014" } ] } ], "crossref": [ { "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19759014", "url": "https://glygen.org/publication/PubMed/19759014", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "GFLLMWCSSTNSIALTAYTY", "down_seq": "TIFDLFSLMTCLISYWVTLR", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "No effect on heterodimer formation with SLC30A5 and no effect on zinc transport; when associated with H-201.", "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" }, { "database": "PubMed", "id": "19759014", "url": "https://glygen.org/publication/PubMed/19759014" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q6NXT4-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q6NXT4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q6NXT4-1.70.70", "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": "Q6NXT4-1.70.70", "start_pos": 70, "end_pos": 70, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Demonstration and characterization of the heterodimerization of ZnT5 and ZnT6 in the early secretory pathway.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Fukunaka A, Suzuki T, Kurokawa Y, Yamazaki T, Fujiwara N, Ishihara K, Migaki H, Okumura K, Masuda S, Yamaguchi-Iwai Y, Nagao M, Kambe T", "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "reference": [ { "type": "PubMed", "id": "19759014", "url": "https://glygen.org/publication/PubMed/19759014" } ] } ], "crossref": [ { "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "19759014", "url": "https://glygen.org/publication/PubMed/19759014", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "MWCSSTNSIALTAYTYLTIF", "down_seq": "LFSLMTCLISYWVTLRKPSP", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "No effect on heterodimer formation with SLC30A5 and no effect on zinc transport; when associated with A-205.", "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" }, { "database": "PubMed", "id": "19759014", "url": "https://glygen.org/publication/PubMed/19759014" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q6NXT4-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q6NXT4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q6NXT4-1.66.66", "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": "Q6NXT4-1.159.159", "start_pos": 159, "end_pos": 159, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1190398370", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1190398370", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1190398370", "url": "https://www.ensembl.org/id/rs1190398370", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "VGTFVALCFNLFTMLSIRNK", "down_seq": "FAYVSEAASTSWLQEHVADL", "snv": [ { "evidence": [ { "id": "rs1190398370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1190398370" }, { "id": "rs1190398370", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1190398370" } ], "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": "2", "chr_pos": "32193962", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P159", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q6NXT4-1.168.168", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6NXT4-1.168.168", "start_pos": 168, "end_pos": 168, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs764666019", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764666019", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs764666019", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764666019", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs764666019", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764666019#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs764666019", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764666019", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NLFTMLSIRNKPFAYVSEAA", "down_seq": "TSWLQEHVADLSRSLCGIIP", "snv": [ { "evidence": [ { "id": "rs764666019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764666019" }, { "id": "rs764666019", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764666019" }, { "id": "rs764666019", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764666019#frequency_tab" }, { "id": "rs764666019", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764666019" } ], "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 (STS->NTS).", "chr_id": "2", "chr_pos": "32197350", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S168", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q6NXT4-1.159.159", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6NXT4-1.197.197", "start_pos": 197, "end_pos": 197, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6NXT4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6NXT4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ADLSRSLCGIIPGLSSIFLP", "down_seq": "MNPFVLIDLAGAFALCITYM", "snv": [ { "evidence": [ { "id": "Q6NXT4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6NXT4" } ], "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": "2", "chr_pos": "32197751", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R197", "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": "glycosylation", "site_list": [ { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q6NXT4-1.201.201", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6NXT4-1.205.205", "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": "Q6NXT4-1.304.304", "start_pos": 304, "end_pos": 304, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6NXT4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6NXT4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "NEHFWTLGFGSLAGSVHVRI", "down_seq": "RDANEQMVLAHVTNRLYTLV", "snv": [ { "evidence": [ { "id": "Q6NXT4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6NXT4" } ], "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": "2", "chr_pos": "32220237", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R304", "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" } ] }, { "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": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "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": "Q6NXT4-1.365.365", "start_pos": 365, "end_pos": 365, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1686068057", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1686068057", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1686068057", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1686068057#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1686068057", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1686068057", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1686068057", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1686068057", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "PVAANVLNFSDHHVIPMPLL", "down_seq": "GTDDLNPVTSTPAKPSSPPP", "snv": [ { "evidence": [ { "id": "rs1686068057", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1686068057" }, { "id": "rs1686068057", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1686068057#frequency_tab" }, { "id": "rs1686068057", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1686068057" }, { "id": "rs1686068057", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1686068057" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KGT->NGT).", "chr_id": "2", "chr_pos": "32220422", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K365", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q6NXT4-1.367.367", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q6NXT4-1.374.374", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q6NXT4-1.375.375", "categories": [ "glycosylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q6NXT4-1.376.376", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q6NXT4-1.381.381", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q6NXT4-1.382.382", "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": "Q6NXT4-1.456.456", "start_pos": 456, "end_pos": 456, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1009458166", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1009458166", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1009458166", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1009458166#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "TQGLRTGFTNIPSRYGTNNR", "down_seq": "GQPRP", "snv": [ { "evidence": [ { "id": "rs1009458166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1009458166" }, { "id": "rs1009458166", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1009458166#frequency_tab" } ], "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": "2", "chr_pos": "32220694", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I456", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "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": "Q6NXT4-1.53.53", "start_pos": 53, "end_pos": 53, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6NXT4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6NXT4", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs757690778", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757690778", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs757690778", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757690778", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs757690778", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757690778#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs757690778", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757690778", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KILLFGVINLICTGFLLMWC", "down_seq": "STNSIALTAYTYLTIFDLFS", "snv": [ { "evidence": [ { "id": "Q6NXT4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6NXT4" }, { "id": "rs757690778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757690778" }, { "id": "rs757690778", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757690778" }, { "id": "rs757690778", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757690778#frequency_tab" }, { "id": "rs757690778", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757690778" } ], "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 (SST->NST).", "chr_id": "2", "chr_pos": "32174130", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S53", "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": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q6NXT4-1.58.58", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q6NXT4-1.66.66", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q6NXT4-1.70.70", "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": "Q6NXT4-1.58.58", "start_pos": 58, "end_pos": 58, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs758874188", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758874188", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758874188", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758874188", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758874188", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758874188", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "GVINLICTGFLLMWCSSTNS", "down_seq": "ALTAYTYLTIFDLFSLMTCL", "snv": [ { "evidence": [ { "id": "rs758874188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758874188" }, { "id": "rs758874188", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758874188" }, { "id": "rs758874188", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758874188" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSI->NST).", "chr_id": "2", "chr_pos": "32174145", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I58", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q6NXT4-1.53.53", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6NXT4-1.66.66", "categories": [ "mutagenesis_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q6NXT4-1.70.70", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6NXT4-1.381.381", "start_pos": 381, "end_pos": 381, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "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": "iPTMnet", "id": "Q6NXT4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NXT4-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Mol. 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": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" }, { "database": "iPTMnet", "id": "Q6NXT4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NXT4-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] } ], "crossref": [ { "id": "Q6NXT4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NXT4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MPLLKGTDDLNPVTSTPAKP", "down_seq": "SPPPEFSFNTPGKNVNPVIL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6NXT4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NXT4" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser381" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q6NXT4-1.365.365", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q6NXT4-1.367.367", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q6NXT4-1.374.374", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q6NXT4-1.375.375", "categories": [ "glycosylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q6NXT4-1.376.376", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q6NXT4-1.382.382", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q6NXT4-1.391.391", "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": "Q6NXT4-1.382.382", "start_pos": 382, "end_pos": 382, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "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": "iPTMnet", "id": "Q6NXT4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NXT4-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Mol. 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": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" }, { "database": "iPTMnet", "id": "Q6NXT4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NXT4-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] } ], "crossref": [ { "id": "Q6NXT4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NXT4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "PLLKGTDDLNPVTSTPAKPS", "down_seq": "PPPEFSFNTPGKNVNPVILL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6NXT4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NXT4" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser382" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q6NXT4-1.365.365", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q6NXT4-1.367.367", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q6NXT4-1.374.374", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q6NXT4-1.375.375", "categories": [ "glycosylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q6NXT4-1.376.376", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q6NXT4-1.381.381", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q6NXT4-1.391.391", "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": "Q6NXT4-1.391.391", "start_pos": 391, "end_pos": 391, "uniprot_canonical_ac": "Q6NXT4-1", "length": 461, "uniprot_id": "ZNT6_HUMAN", "protein_name": "Zinc transporter 6", "refseq_ac": "NP_001180442", "refseq_name": "zinc transporter 6 isoform 1", "gene_name": "SLC30A6", "gene_names_uniprotkb": "SLC30A6; ZNT6", "gene_names_refseq": "MST103; MSTP103; SLC30A6; ZNT6", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6NXT4", "url": "https://www.uniprot.org/uniprotkb/Q6NXT4" } ], "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": "iPTMnet", "id": "Q6NXT4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NXT4-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "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": "iPTMnet", "id": "Q6NXT4-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NXT4-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q6NXT4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NXT4", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "NPVTSTPAKPSSPPPEFSFN", "down_seq": "PGKNVNPVILLNTQTRPYGF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6NXT4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6NXT4" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr391" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "375", "end_pos": "375" }, { "start_pos": "376", "end_pos": "376" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "201", "end_pos": "201" }, { "start_pos": "205", "end_pos": "205" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "70", "end_pos": "70" } ] }, { "type": "snv", "site_list": [ { "start_pos": "159", "end_pos": "159" }, { "start_pos": "168", "end_pos": "168" }, { "start_pos": "197", "end_pos": "197" }, { "start_pos": "304", "end_pos": "304" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "367", "end_pos": "367" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "376", "end_pos": "376" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "58", "end_pos": "58" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "381", "end_pos": "381" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "391", "end_pos": "391" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q6NXT4-1.374.374", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q6NXT4-1.375.375", "categories": [ "glycosylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q6NXT4-1.376.376", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q6NXT4-1.381.381", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q6NXT4-1.382.382", "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": "P51523-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "P51523-1", "length": 738, "uniprot_id": "ZNF84_HUMAN", "protein_name": "Zinc finger protein 84", "refseq_ac": "NP_001120844", "refseq_name": "zinc finger protein 84", "gene_name": "ZNF84", "gene_names_uniprotkb": "ZNF84", "gene_names_refseq": "HPF2; ZNF84", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51523", "url": "https://www.uniprot.org/uniprotkb/P51523" } ], "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": "P51523", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P51523" } ], "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": "P51523", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P51523", "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": "P51523", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P51523" } ] } ], "all_sites": [ { "type": "phosphorylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] } ], "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": "P51523-1.128.128", "start_pos": 128, "end_pos": 128, "uniprot_canonical_ac": "P51523-1", "length": 738, "uniprot_id": "ZNF84_HUMAN", "protein_name": "Zinc finger protein 84", "refseq_ac": "NP_001120844", "refseq_name": "zinc finger protein 84", "gene_name": "ZNF84", "gene_names_uniprotkb": "ZNF84", "gene_names_refseq": "HPF2; ZNF84", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P51523", "url": "https://www.uniprot.org/uniprotkb/P51523" } ], "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": "P51523", "url": "https://www.uniprot.org/uniprotkb/P51523" }, { "database": "iPTMnet", "id": "P51523", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51523" } ], "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": "P51523", "url": "https://www.uniprot.org/uniprotkb/P51523" }, { "database": "iPTMnet", "id": "P51523", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51523" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] } ], "crossref": [ { "id": "P51523", "url": "https://www.uniprot.org/uniprotkb/P51523", "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": "P51523", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51523", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DAFGKNFNLNMNFVPLRKSN", "down_seq": "EGDLDGLILKHHLDLLIPKG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P51523", "url": "https://www.uniprot.org/uniprotkb/P51523" }, { "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": "P51523", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51523" } ], "site_lbl": "Ser128" } ], "all_sites": [ { "type": "phosphorylation", "site_list": [ { "start_pos": "128", "end_pos": "128" } ] } ], "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": "Q9H5U6-1.493.493", "start_pos": 493, "end_pos": 493, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "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": "rs1396441023", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1396441023", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1396441023", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1396441023", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "KQKQRKSNKMKMETTKGQSM", "down_seq": "HTSATRRKKRRERAHQYLGS", "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": "GQSMNHTSATR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn493", "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": "rs1396441023", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1396441023" }, { "id": "rs1396441023", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1396441023" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NHT->SHT).", "chr_id": "4", "chr_pos": "25369100", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N493", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9H5U6-1.479.479", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q9H5U6-1.487.487", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9H5U6-1.495.495", "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": "Q9H5U6-1.173.173", "start_pos": 173, "end_pos": 173, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structure and regulation of ZCCHC4 in m(6)A-methylation of 28S rRNA.", "journal": "Nature communications", "date": "2019", "authors": "Ren W, Lu J, Huang M, Gao L, Li D, Wang GG, Song J", "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" }, { "database": "RefSeq", "id": "NP_079212", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079212" } ], "reference": [ { "type": "PubMed", "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039" } ] } ], "crossref": [ { "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "QLRRPSQLLYPLENKKTNAQ", "down_seq": "LFADRSCQFLVDLLSALGFR", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolished rRNA methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" }, { "database": "PubMed", "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q9H5U6-1.167.167", "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": "Q9H5U6-1.276.276", "start_pos": 276, "end_pos": 276, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "The human methyltransferase ZCCHC4 catalyses N6-methyladenosine modification of 28S ribosomal RNA.", "journal": "Nucleic acids research", "date": "2020", "authors": "Pinto R, Vagbo CB, Jakobsson ME, Kim Y, Baltissen MP, O'Donohue MF, Guzman UH, Malecki JM, Wu J, Kirpekar F, Olsen JV, Gleizes PE, Vermeulen M, Leidel SA, Slupphaug G, Falnes PO", "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" }, { "database": "RefSeq", "id": "NP_079212", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079212" } ], "reference": [ { "type": "PubMed", "id": "31799605", "url": "https://glygen.org/publication/PubMed/31799605" } ] } ], "crossref": [ { "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "31799605", "url": "https://glygen.org/publication/PubMed/31799605", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LEVCRAFLQEDKGEGIIMVT", "down_seq": "PPFGGLVEPLAITFKKLIAM", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" }, { "database": "PubMed", "id": "31799605", "url": "https://glygen.org/publication/PubMed/31799605" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 0, "direction": "upstream", "id": "Q9H5U6-1.276.279", "categories": [ "mutagenesis_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q9H5U6-1.287.287", "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": "Q9H5U6-1.276.279", "start_pos": 276, "end_pos": 279, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "N(6-)Methyladenosine methyltransferase ZCCHC4 mediates ribosomal RNA methylation.", "journal": "Nature chemical biology", "date": "2019", "authors": "Ma H, Wang X, Cai J, Dai Q, Natchiar SK, Lv R, Chen K, Lu Z, Chen H, Shi YG, Lan F, Fan J, Klaholz BP, Pan T, Shi Y, He C", "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" }, { "database": "RefSeq", "id": "NP_079212", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079212" } ], "reference": [ { "type": "PubMed", "id": "30531910", "url": "https://glygen.org/publication/PubMed/30531910" } ] } ], "crossref": [ { "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "30531910", "url": "https://glygen.org/publication/PubMed/30531910", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "DPPF", "start_aa": "D", "up_seq": "LEVCRAFLQEDKGEGIIMVT", "down_seq": "GGLVEPLAITFKKLIAMWKE", "mutagenesis": [ { "sequence_org": "DPPF", "sequence_mut": "AAAA", "comment": "Loss of methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" }, { "database": "PubMed", "id": "30531910", "url": "https://glygen.org/publication/PubMed/30531910" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 0, "direction": "downstream", "id": "Q9H5U6-1.276.276", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9H5U6-1.287.287", "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": "Q9H5U6-1.340.340", "start_pos": 340, "end_pos": 340, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structure and regulation of ZCCHC4 in m(6)A-methylation of 28S rRNA.", "journal": "Nature communications", "date": "2019", "authors": "Ren W, Lu J, Huang M, Gao L, Li D, Wang GG, Song J", "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" }, { "database": "RefSeq", "id": "NP_079212", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079212" } ], "reference": [ { "type": "PubMed", "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039" } ] } ], "crossref": [ { "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "FESRICQFFPSFQMLDYQVD", "down_seq": "DNHALYKHGKTGRKQSPVRI", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Strongly impaired rRNA methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" }, { "database": "PubMed", "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q9H5U6-1.341.341", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9H5U6-1.342.342", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9H5U6-1.343.343", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q9H5U6-1.345.345", "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": "Q9H5U6-1.341.341", "start_pos": 341, "end_pos": 341, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structure and regulation of ZCCHC4 in m(6)A-methylation of 28S rRNA.", "journal": "Nature communications", "date": "2019", "authors": "Ren W, Lu J, Huang M, Gao L, Li D, Wang GG, Song J", "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" }, { "database": "RefSeq", "id": "NP_079212", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079212" } ], "reference": [ { "type": "PubMed", "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039" } ] } ], "crossref": [ { "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ESRICQFFPSFQMLDYQVDY", "down_seq": "NHALYKHGKTGRKQSPVRIF", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Increased rRNA methylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" }, { "database": "PubMed", "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9H5U6-1.340.340", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9H5U6-1.342.342", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9H5U6-1.343.343", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q9H5U6-1.345.345", "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": "Q9H5U6-1.342.342", "start_pos": 342, "end_pos": 342, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structure and regulation of ZCCHC4 in m(6)A-methylation of 28S rRNA.", "journal": "Nature communications", "date": "2019", "authors": "Ren W, Lu J, Huang M, Gao L, Li D, Wang GG, Song J", "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" }, { "database": "RefSeq", "id": "NP_079212", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079212" } ], "reference": [ { "type": "PubMed", "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039" } ] } ], "crossref": [ { "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "SRICQFFPSFQMLDYQVDYD", "down_seq": "HALYKHGKTGRKQSPVRIFT", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Strongly impaired rRNA methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" }, { "database": "PubMed", "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9H5U6-1.340.340", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9H5U6-1.341.341", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q9H5U6-1.343.343", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9H5U6-1.345.345", "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": "Q9H5U6-1.343.343", "start_pos": 343, "end_pos": 343, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structure and regulation of ZCCHC4 in m(6)A-methylation of 28S rRNA.", "journal": "Nature communications", "date": "2019", "authors": "Ren W, Lu J, Huang M, Gao L, Li D, Wang GG, Song J", "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" }, { "database": "RefSeq", "id": "NP_079212", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079212" } ], "reference": [ { "type": "PubMed", "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039" } ] } ], "crossref": [ { "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "RICQFFPSFQMLDYQVDYDN", "down_seq": "ALYKHGKTGRKQSPVRIFTN", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Decreased S-adenosyl-L-methionine-binding.", "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" }, { "database": "PubMed", "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039" } ] }, { "sequence_org": "H", "sequence_mut": "A", "comment": "Strongly impaired rRNA methyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" }, { "database": "PubMed", "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9H5U6-1.340.340", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9H5U6-1.341.341", "categories": [ "mutagenesis_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q9H5U6-1.342.342", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q9H5U6-1.345.345", "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": "Q9H5U6-1.345.345", "start_pos": 345, "end_pos": 345, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Structure and regulation of ZCCHC4 in m(6)A-methylation of 28S rRNA.", "journal": "Nature communications", "date": "2019", "authors": "Ren W, Lu J, Huang M, Gao L, Li D, Wang GG, Song J", "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" }, { "database": "RefSeq", "id": "NP_079212", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079212" } ], "reference": [ { "type": "PubMed", "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039" } ] } ], "crossref": [ { "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "CQFFPSFQMLDYQVDYDNHA", "down_seq": "YKHGKTGRKQSPVRIFTNIP", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Increased rRNA methylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" }, { "database": "PubMed", "id": "31695039", "url": "https://glygen.org/publication/PubMed/31695039" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q9H5U6-1.340.340", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q9H5U6-1.341.341", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q9H5U6-1.342.342", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9H5U6-1.343.343", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q9H5U6-1.365.365", "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": "Q9H5U6-1.167.167", "start_pos": 167, "end_pos": 167, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H5U6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H5U6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GNVSITQLRRPSQLLYPLEN", "down_seq": "KTNAQYLFADRSCQFLVDLL", "snv": [ { "evidence": [ { "id": "Q9H5U6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H5U6" } ], "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": "4", "chr_pos": "25333354", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K167", "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": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "Q9H5U6-1.173.173", "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": "Q9H5U6-1.208.208", "start_pos": 208, "end_pos": 208, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs978478720", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs978478720", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs978478720", "url": "https://www.ncbi.nlm.nih.gov/snp/rs978478720#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs978478720", "url": "http://gnomad.broadinstitute.org/awesome?query=rs978478720", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SALGFRRVLCVGTPRLHELI", "down_seq": "LTASGDKKSNIKSLLLDIDF", "snv": [ { "evidence": [ { "id": "rs978478720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs978478720" }, { "id": "rs978478720", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs978478720#frequency_tab" }, { "id": "rs978478720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs978478720" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KLT->NLT).", "chr_id": "4", "chr_pos": "25333926", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K208", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "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": "Q9H5U6-1.229.229", "start_pos": 229, "end_pos": 229, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H5U6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H5U6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "LTASGDKKSNIKSLLLDIDF", "down_seq": "YSQFYMEDSFCHYNMFNHHF", "snv": [ { "evidence": [ { "id": "Q9H5U6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H5U6" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "4", "chr_pos": "25333988", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R229", "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: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: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": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "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": "Q9H5U6-1.287.287", "start_pos": 287, "end_pos": 287, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H5U6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H5U6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "KGEGIIMVTDPPFGGLVEPL", "down_seq": "ITFKKLIAMWKEGQSQDDSH", "snv": [ { "evidence": [ { "id": "Q9H5U6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H5U6" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "A", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "4", "chr_pos": "25349592", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A287", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q9H5U6-1.276.276", "categories": [ "mutagenesis_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9H5U6-1.276.279", "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": "Q9H5U6-1.365.365", "start_pos": 365, "end_pos": 365, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H5U6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H5U6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LYKHGKTGRKQSPVRIFTNI", "down_seq": "PNKIILPTEEGYRFCSPCQR", "snv": [ { "evidence": [ { "id": "Q9H5U6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H5U6" } ], "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": "4", "chr_pos": "25361940", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P365", "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": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9H5U6-1.345.345", "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": "Q9H5U6-1.426.426", "start_pos": 426, "end_pos": 426, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1720887296", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1720887296", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1720887296", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1720887296#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RKWNHCFLCKKCVKPSWIHC", "down_seq": "ICNHCAVPDHSCEGPKHGCF", "snv": [ { "evidence": [ { "id": "rs1720887296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1720887296" }, { "id": "rs1720887296", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1720887296#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 (SIC->NIC).", "chr_id": "4", "chr_pos": "25365037", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S426", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "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": "Q9H5U6-1.456.456", "start_pos": 456, "end_pos": 456, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs765831516", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765831516", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs765831516", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765831516", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs765831516", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765831516#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs765831516", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765831516", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "HSCEGPKHGCFICGELDHKR", "down_seq": "TCPNIATSKRANKAVRKQKQ", "snv": [ { "evidence": [ { "id": "rs765831516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765831516" }, { "id": "rs765831516", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765831516" }, { "id": "rs765831516", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765831516#frequency_tab" }, { "id": "rs765831516", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765831516" } ], "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 (STC->NTC).", "chr_id": "4", "chr_pos": "25365127", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S456", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q9H5U6-1.470.470", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H5U6-1.470.470", "start_pos": 470, "end_pos": 470, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1721049759", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1721049759", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1721049759", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1721049759#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1721049759", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1721049759", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ELDHKRSTCPNIATSKRANK", "down_seq": "VRKQKQRKSNKMKMETTKGQ", "snv": [ { "evidence": [ { "id": "rs1721049759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1721049759" }, { "id": "rs1721049759", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1721049759#frequency_tab" }, { "id": "rs1721049759", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1721049759" } ], "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": "4", "chr_pos": "25369030", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A470", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q9H5U6-1.456.456", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q9H5U6-1.479.479", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q9H5U6-1.487.487", "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": "Q9H5U6-1.495.495", "start_pos": 495, "end_pos": 495, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2109098716", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2109098716", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2109098716", "url": "https://www.ensembl.org/id/rs2109098716", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KQRKSNKMKMETTKGQSMNH", "down_seq": "SATRRKKRRERAHQYLGS", "snv": [ { "evidence": [ { "id": "rs2109098716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2109098716" }, { "id": "rs2109098716", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2109098716" } ], "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": "4", "chr_pos": "25369106", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T495", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q9H5U6-1.479.479", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9H5U6-1.487.487", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q9H5U6-1.493.493", "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": "Q9H5U6-1.56.56", "start_pos": 56, "end_pos": 56, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H5U6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H5U6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "PAPLCPHGPTLLFVKVTQGK", "down_seq": "ETRRFYACSACRDRKDCNFF", "snv": [ { "evidence": [ { "id": "Q9H5U6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H5U6" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "4", "chr_pos": "25314084", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E56", "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": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q9H5U6-1.76.76", "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": "Q9H5U6-1.5.5", "start_pos": 5, "end_pos": 5, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9H5U6", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H5U6", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "MAAS", "down_seq": "NGFEAVEAEGSAGCRGSSGM", "snv": [ { "evidence": [ { "id": "Q9H5U6", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9H5U6" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "25312822", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "R5", "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: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": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9H5U6-1.8.8", "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": "Q9H5U6-1.76.76", "start_pos": 76, "end_pos": 76, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1196333473", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196333473", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1196333473", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196333473", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "EETRRFYACSACRDRKDCNF", "down_seq": "QWEDEKLSGARLAAREAHNR", "snv": [ { "evidence": [ { "id": "rs1196333473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196333473" }, { "id": "rs1196333473", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196333473" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFF->NFC).", "chr_id": "4", "chr_pos": "25314145", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F76", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1196333473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196333473" }, { "id": "rs1196333473", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196333473" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NFF->NFS).", "chr_id": "4", "chr_pos": "25314145", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F76", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9H5U6-1.56.56", "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": 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": "Q9H5U6-1.8.8", "start_pos": 8, "end_pos": 8, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1718015817", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1718015817", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1718015817", "url": "https://www.ensembl.org/id/rs1718015817", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "MAASRNG", "down_seq": "EAVEAEGSAGCRGSSGMEVV", "snv": [ { "evidence": [ { "id": "rs1718015817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1718015817" }, { "id": "rs1718015817", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1718015817" } ], "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": "4", "chr_pos": "25312832", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F8", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9H5U6-1.5.5", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9H5U6-1.479.479", "start_pos": 479, "end_pos": 479, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "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": "iPTMnet", "id": "Q9H5U6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H5U6-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "Q9H5U6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H5U6", "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": "PNIATSKRANKAVRKQKQRK", "down_seq": "NKMKMETTKGQSMNHTSATR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9H5U6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H5U6" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser479" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q9H5U6-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9H5U6-1.487.487", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q9H5U6-1.493.493", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q9H5U6-1.495.495", "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": "Q9H5U6-1.487.487", "start_pos": 487, "end_pos": 487, "uniprot_canonical_ac": "Q9H5U6-1", "length": 513, "uniprot_id": "ZCHC4_HUMAN", "protein_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4", "refseq_ac": "NP_079212", "refseq_name": "rRNA N(6)-adenosine-methyltransferase ZCCHC4 isoform 1", "gene_name": "ZCCHC4", "gene_names_uniprotkb": "ZCCHC4", "gene_names_refseq": "HSPC052; ZCCHC4; ZGRF4", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9H5U6", "url": "https://www.uniprot.org/uniprotkb/Q9H5U6" } ], "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": "iPTMnet", "id": "Q9H5U6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H5U6-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "Q9H5U6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H5U6", "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": "ANKAVRKQKQRKSNKMKMET", "down_seq": "KGQSMNHTSATRRKKRRERA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9H5U6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H5U6" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Thr487" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "493", "end_pos": "493" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "173", "end_pos": "173" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "276", "end_pos": "279" }, { "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": "345", "end_pos": "345" } ] }, { "type": "snv", "site_list": [ { "start_pos": "167", "end_pos": "167" }, { "start_pos": "208", "end_pos": "208" }, { "start_pos": "229", "end_pos": "229" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "365", "end_pos": "365" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "456", "end_pos": "456" }, { "start_pos": "470", "end_pos": "470" }, { "start_pos": "493", "end_pos": "493" }, { "start_pos": "495", "end_pos": "495" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "5", "end_pos": "5" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "8", "end_pos": "8" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "479", "end_pos": "479" }, { "start_pos": "487", "end_pos": "487" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9H5U6-1.470.470", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q9H5U6-1.479.479", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q9H5U6-1.493.493", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q9H5U6-1.495.495", "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": "Q6N043-1.215.215", "start_pos": 215, "end_pos": 215, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q6N043", "url": "https://oglcnac.org/atlas/detail/Q6N043" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] } ], "crossref": [ { "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6N043", "url": "https://oglcnac.org/atlas/detail/Q6N043", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1224922899", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224922899", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1224922899", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1224922899#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1224922899", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1224922899", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ESVSGANSSAVLPSVKSPSV", "down_seq": "SSQAMLAKGTNTSSNQSKNG", "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": "Thr215", "evidence": [ { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" }, { "id": "Q6N043", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6N043" } ] } ], "snv": [ { "evidence": [ { "id": "rs1224922899", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224922899" }, { "id": "rs1224922899", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1224922899#frequency_tab" }, { "id": "rs1224922899", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1224922899" } ], "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": "15", "chr_pos": "56689326", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T215", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q6N043-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "Q6N043-1.203.203", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q6N043-1.226.226", "categories": [ "glycosylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q6N043-1.228.228", "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": "Q6N043-1.226.226", "start_pos": 226, "end_pos": 226, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "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": "LPSVKSPSVTSSQAMLAKGT", "down_seq": "TSSNQSKNGTPFPRACPKCN", "glycosylation": [ { "glytoucan_ac": "G04854VP", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PSESVSGANSSAVLPSVKSPSVTSSQAMLAKGTNTSSNQSK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn226", "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": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q6N043-1.215.215", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6N043-1.228.228", "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": "Q6N043-1.532.532", "start_pos": 532, "end_pos": 532, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "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": "rs1596411769", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596411769", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1596411769", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1596411769", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PGTKVTIRASVGPLQSGASP", "down_seq": "PSISASASTLQLSPPRTKNI", "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": "Thr532", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1596411769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596411769" }, { "id": "rs1596411769", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1596411769" } ], "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": "15", "chr_pos": "56666937", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T532", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596411769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596411769" }, { "id": "rs1596411769", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1596411769" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->R).", "chr_id": "15", "chr_pos": "56666937", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T532", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q6N043-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q6N043-1.530.530", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q6N043-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q6N043-1.545.545", "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": 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": "Q6N043-1.890.890", "start_pos": 890, "end_pos": 890, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "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": "rs149320162", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149320162", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs149320162", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149320162", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs149320162", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149320162#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs149320162", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149320162", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "NSSEARFSSKNIKDLRLASD", "down_seq": "VSIDQFLRKRHEPESVSSDV", "glycosylation": [ { "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": "Asn890", "evidence": [ { "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": "rs149320162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149320162" }, { "id": "rs149320162", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149320162" }, { "id": "rs149320162", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149320162#frequency_tab" }, { "id": "rs149320162", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149320162" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NVS->SVS).", "chr_id": "15", "chr_pos": "56631769", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N890", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q6N043-1.892.892", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q6N043-1.908.908", "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": 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": 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": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "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": "Q6N043-1.90.90", "start_pos": 90, "end_pos": 90, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q6N043", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6N043" }, { "database": "O-GlcNAc Atlas", "id": "Q6N043", "url": "https://oglcnac.org/atlas/detail/Q6N043" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6N043", "url": "https://oglcnac.org/atlas/detail/Q6N043", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs780316129", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780316129", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780316129", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780316129", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780316129", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780316129", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs758648921", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758648921", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758648921", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758648921", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758648921", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758648921", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SRGLKNGALSRGITAAFKPT", "down_seq": "QHYTNPTSNPVPASPINFHP", "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": "Ser90", "evidence": [ { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q6N043", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6N043" } ] } ], "snv": [ { "evidence": [ { "id": "rs780316129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780316129" }, { "id": "rs780316129", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780316129" }, { "id": "rs780316129", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780316129" } ], "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": "15", "chr_pos": "56701046", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S90", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758648921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758648921" }, { "id": "rs758648921", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758648921" }, { "id": "rs758648921", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758648921" } ], "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": "56701045", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S90", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q6N043-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q6N043-1.94.94", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q6N043-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q6N043-1.97.97", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6N043-1.98.98", "categories": [ "glycosylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q6N043-1.104.104", "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": 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": "Q6N043-1.94.94", "start_pos": 94, "end_pos": 94, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "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": "Q6N043", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6N043" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "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": "Q6N043", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6N043" }, { "database": "O-GlcNAc Atlas", "id": "Q6N043", "url": "https://oglcnac.org/atlas/detail/Q6N043" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6N043", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6N043", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6N043", "url": "https://oglcnac.org/atlas/detail/Q6N043", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs201400339", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201400339", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs201400339", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201400339", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs201400339", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201400339", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs201400339", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201400339#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs201400339", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201400339", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q6N043", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6N043", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs201400339", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201400339", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "KNGALSRGITAAFKPTSQHY", "down_seq": "NPTSNPVPASPINFHPESRS", "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": "Thr94", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q6N043", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6N043" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q6N043", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6N043" } ] } ], "snv": [ { "evidence": [ { "id": "rs201400339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201400339" }, { "id": "rs201400339", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201400339" }, { "id": "rs201400339", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201400339" }, { "id": "rs201400339", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201400339#frequency_tab" }, { "id": "rs201400339", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201400339" } ], "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": "15", "chr_pos": "56701033", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T94", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q6N043", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6N043" }, { "id": "rs201400339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201400339" }, { "id": "rs201400339", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201400339" }, { "id": "rs201400339", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201400339" }, { "id": "rs201400339", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201400339#frequency_tab" }, { "id": "rs201400339", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201400339" }, { "id": "rs201400339", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201400339" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->M).", "chr_id": "15", "chr_pos": "56701033", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T94", "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": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q6N043-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q6N043-1.90.90", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6N043-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q6N043-1.97.97", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q6N043-1.98.98", "categories": [ "glycosylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q6N043-1.104.104", "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": 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": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q6N043-1.97.97", "start_pos": 97, "end_pos": 97, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "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": "Q6N043", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6N043" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "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": "Q6N043", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6N043" }, { "database": "O-GlcNAc Atlas", "id": "Q6N043", "url": "https://oglcnac.org/atlas/detail/Q6N043" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6N043", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6N043", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6N043", "url": "https://oglcnac.org/atlas/detail/Q6N043", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1220549165", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1220549165", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1220549165", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1220549165#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1220549165", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1220549165", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2057032097", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2057032097", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2057032097", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2057032097#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs2057032097", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2057032097", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ALSRGITAAFKPTSQHYTNP", "down_seq": "SNPVPASPINFHPESRSSDS", "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": "Thr97", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q6N043", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6N043" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q6N043", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6N043" } ] } ], "snv": [ { "evidence": [ { "id": "rs1220549165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1220549165" }, { "id": "rs1220549165", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1220549165#frequency_tab" }, { "id": "rs1220549165", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1220549165" } ], "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": "56701025", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T97", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2057032097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2057032097" }, { "id": "rs2057032097", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2057032097#frequency_tab" }, { "id": "rs2057032097", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2057032097" } ], "glycoeffect": [ "o-glyco-site-loss" ], "sequence_org": "T", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->K).", "chr_id": "15", "chr_pos": "56701024", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T97", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q6N043-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q6N043-1.90.90", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q6N043-1.94.94", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q6N043-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q6N043-1.98.98", "categories": [ "glycosylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q6N043-1.104.104", "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": 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": "Q6N043-1.98.98", "start_pos": 98, "end_pos": 98, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "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": "Q6N043", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6N043" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "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": "Q6N043", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6N043" }, { "database": "O-GlcNAc Atlas", "id": "Q6N043", "url": "https://oglcnac.org/atlas/detail/Q6N043" } ], "reference": [ { "type": "PubMed", "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6N043", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6N043", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "39534244", "url": "https://glygen.org/publication/PubMed/39534244", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6N043", "url": "https://oglcnac.org/atlas/detail/Q6N043", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LSRGITAAFKPTSQHYTNPT", "down_seq": "NPVPASPINFHPESRSSDSS", "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": "Ser98", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q6N043", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6N043" }, { "id": "39534244", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39534244" }, { "id": "Q6N043", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6N043" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q6N043-1.90.90", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q6N043-1.94.94", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q6N043-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q6N043-1.97.97", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q6N043-1.104.104", "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", "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": "Q6N043-1.963.963", "start_pos": 963, "end_pos": 963, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs749619007", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749619007", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs749619007", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749619007", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs749619007", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749619007#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs749619007", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749619007", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q6N043", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6N043", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs778052097", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778052097", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs778052097", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778052097", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs778052097", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778052097#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs778052097", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778052097", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "SAKTDEVVSDQTDDIPGGNN", "down_seq": "STTEATVDLEDEKERS", "snv": [ { "evidence": [ { "id": "rs749619007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749619007" }, { "id": "rs749619007", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749619007" }, { "id": "rs749619007", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749619007#frequency_tab" }, { "id": "rs749619007", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749619007" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NPS->NSS); n-glyco-sequon-gain (NNP->NNS).", "chr_id": "15", "chr_pos": "56631551", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P963", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q6N043", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6N043" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NPS->NHS).", "chr_id": "15", "chr_pos": "56631550", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P963", "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": "rs778052097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778052097" }, { "id": "rs778052097", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778052097" }, { "id": "rs778052097", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778052097#frequency_tab" }, { "id": "rs778052097", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778052097" } ], "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": "15", "chr_pos": "56631550", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P963", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "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": 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": "Q6N043-1.10.10", "start_pos": 10, "end_pos": 10, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs758086589", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758086589", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs758086589", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758086589", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs758086589", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758086589#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MGDNPFQPK", "down_seq": "NSKMAELFMECEEEELEPWQ", "snv": [ { "evidence": [ { "id": "rs758086589", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758086589" }, { "id": "rs758086589", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758086589" }, { "id": "rs758086589", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758086589#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 (SNS->NNS).", "chr_id": "15", "chr_pos": "56704267", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S10", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "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": "Q6N043-1.195.195", "start_pos": 195, "end_pos": 195, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6N043", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6N043", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SKRPSTSEVNNVNPKKPKPS", "down_seq": "SVSGANSSAVLPSVKSPSVT", "snv": [ { "evidence": [ { "id": "Q6N043", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6N043" } ], "glycoeffect": [], "subjects_tested": "1773", "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": "56689387", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E195", "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": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q6N043-1.194.194", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6N043-1.203.203", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q6N043-1.215.215", "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": "Q6N043-1.228.228", "start_pos": 228, "end_pos": 228, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6N043", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6N043", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs1596508068", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596508068", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1596508068", "url": "https://www.ensembl.org/id/rs1596508068", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs1596508068", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1596508068", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SVKSPSVTSSQAMLAKGTNT", "down_seq": "SNQSKNGTPFPRACPKCNIH", "snv": [ { "evidence": [ { "id": "Q6N043", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6N043" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-loss (NTS->NT*).", "chr_id": "15", "chr_pos": "56689138", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S228", "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": "Q6N043", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6N043" }, { "id": "rs1596508068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596508068" }, { "id": "rs1596508068", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596508068" }, { "id": "rs1596508068", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1596508068" } ], "glycoeffect": [ "n-glyco-sequon-loss", "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: n-glyco-sequon-loss (NTS->NTL).", "chr_id": "15", "chr_pos": "56689138", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S228", "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" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q6N043-1.215.215", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q6N043-1.226.226", "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": "Q6N043-1.260.260", "start_pos": 260, "end_pos": 260, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6N043", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6N043", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RACPKCNIHFNLLDPLKNHM", "down_seq": "YCCPDMINNFLGLAKTEFSS", "snv": [ { "evidence": [ { "id": "Q6N043", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6N043" } ], "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 (KYC->NYC).", "chr_id": "15", "chr_pos": "56689041", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K260", "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": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "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": "Q6N043-1.302.302", "start_pos": 302, "end_pos": 302, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1173491008", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173491008", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1173491008", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1173491008#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1173491008", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1173491008", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "VNKNTTIDSEKGKLIMLVND", "down_seq": "YYGKHEGDVQEEQKTHTTFK", "snv": [ { "evidence": [ { "id": "rs1173491008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1173491008" }, { "id": "rs1173491008", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1173491008#frequency_tab" }, { "id": "rs1173491008", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1173491008" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDF->NDS).", "chr_id": "15", "chr_pos": "56682353", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F302", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "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": "Q6N043-1.340.340", "start_pos": 340, "end_pos": 340, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1303258522", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303258522", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1303258522", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303258522", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "TFKCFSCLKILKNNIRFMNH", "down_seq": "KHHLELEKQSSESWENHTTC", "snv": [ { "evidence": [ { "id": "rs1303258522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1303258522" }, { "id": "rs1303258522", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1303258522" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NHM->NHT).", "chr_id": "15", "chr_pos": "56678807", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M340", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q6N043-1.351.351", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6N043-1.351.351", "start_pos": 351, "end_pos": 351, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1419437195", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419437195", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1419437195", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1419437195#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1419437195", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419437195", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KNNIRFMNHMKHHLELEKQS", "down_seq": "ESWENHTTCQHCYRQFPTPF", "snv": [ { "evidence": [ { "id": "rs1419437195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419437195" }, { "id": "rs1419437195", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1419437195#frequency_tab" }, { "id": "rs1419437195", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1419437195" } ], "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 (SES->NES).", "chr_id": "15", "chr_pos": "56678774", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S351", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q6N043-1.340.340", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6N043-1.515.515", "start_pos": 515, "end_pos": 515, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs909152019", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs909152019", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs909152019", "url": "https://www.ensembl.org/id/rs909152019", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TQHHRTFIKPKQLEGLPPGT", "down_seq": "VTIRASVGPLQSGASPTPSI", "snv": [ { "evidence": [ { "id": "rs909152019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs909152019" }, { "id": "rs909152019", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs909152019" } ], "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": "15", "chr_pos": "56668823", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K515", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "upstream", "id": "Q6N043-1.530.530", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q6N043-1.532.532", "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": "Q6N043-1.538.538", "start_pos": 538, "end_pos": 538, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2054329862", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2054329862", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2054329862", "url": "https://www.ensembl.org/id/rs2054329862", "database": "ENSEMBL", "categories": [ "Other" ] }, { "id": "rs2054329862", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2054329862", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IRASVGPLQSGASPTPSISA", "down_seq": "ASTLQLSPPRTKNITAKNPA", "snv": [ { "evidence": [ { "id": "rs2054329862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2054329862" }, { "id": "rs2054329862", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2054329862" }, { "id": "rs2054329862", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2054329862" } ], "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 (SAS->NAS).", "chr_id": "15", "chr_pos": "56666919", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S538", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q6N043-1.530.530", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q6N043-1.532.532", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q6N043-1.545.545", "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": "Q6N043-1.603.603", "start_pos": 603, "end_pos": 603, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6N043", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6N043", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SKSKYKPKISNMQKKQSTLA", "down_seq": "SNKKSKVNTALRNLRYRRGI", "snv": [ { "evidence": [ { "id": "Q6N043", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6N043" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "15", "chr_pos": "56666724", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S603", "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: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": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q6N043-1.607.607", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q6N043-1.613.613", "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": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6N043-1.607.607", "start_pos": 607, "end_pos": 607, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1393265111", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1393265111", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1393265111", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1393265111#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1393265111", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1393265111", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "YKPKISNMQKKQSTLASSNK", "down_seq": "SKVNTALRNLRYRRGIHKCI", "snv": [ { "evidence": [ { "id": "rs1393265111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1393265111" }, { "id": "rs1393265111", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1393265111#frequency_tab" }, { "id": "rs1393265111", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1393265111" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKK->NKT).", "chr_id": "15", "chr_pos": "56666712", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K607", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q6N043-1.603.603", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q6N043-1.613.613", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6N043-1.613.613", "start_pos": 613, "end_pos": 613, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1215274681", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1215274681", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1215274681", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1215274681#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1215274681", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1215274681", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "NMQKKQSTLASSNKKSKVNT", "down_seq": "LRNLRYRRGIHKCIECCSEI", "snv": [ { "evidence": [ { "id": "rs1215274681", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1215274681" }, { "id": "rs1215274681", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1215274681#frequency_tab" }, { "id": "rs1215274681", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1215274681" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NTA->NTT).", "chr_id": "15", "chr_pos": "56666695", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A613", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q6N043-1.603.603", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q6N043-1.607.607", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6N043-1.654.654", "start_pos": 654, "end_pos": 654, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1274451624", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1274451624", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1274451624", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1274451624#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1274451624", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1274451624", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KDFANHFPTYVHCSFCRYNT", "down_seq": "CSKAYVNHMMSFHSNRPSKR", "snv": [ { "evidence": [ { "id": "rs1274451624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1274451624" }, { "id": "rs1274451624", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1274451624#frequency_tab" }, { "id": "rs1274451624", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1274451624" } ], "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 (SCS->NCS).", "chr_id": "15", "chr_pos": "56666428", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S654", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q6N043-1.671.671", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6N043-1.66.66", "start_pos": 66, "end_pos": 66, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1157723878", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1157723878", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1157723878", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1157723878", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "FVGEISSSKPAISNILNRVN", "down_seq": "SSYSRGLKNGALSRGITAAF", "snv": [ { "evidence": [ { "id": "rs1157723878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1157723878" }, { "id": "rs1157723878", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1157723878" } ], "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": "15", "chr_pos": "56701217", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P66", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q6N043-1.77.77", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6N043-1.671.671", "start_pos": 671, "end_pos": 671, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2140743809", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140743809", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2140743809", "url": "https://www.ensembl.org/id/rs2140743809", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "YNTSCSKAYVNHMMSFHSNR", "down_seq": "SKRFCIFKKHSENLRGITLV", "snv": [ { "evidence": [ { "id": "rs2140743809", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2140743809" }, { "id": "rs2140743809", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2140743809" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRP->NRS).", "chr_id": "15", "chr_pos": "56658470", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P671", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q6N043-1.654.654", "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": "Q6N043-1.708.708", "start_pos": 708, "end_pos": 708, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748463197", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748463197", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748463197", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748463197", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748463197", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748463197#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs748463197", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748463197", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ITLVCLNCDFLSDVSGLDNM", "down_seq": "THLSQHKTHTCQVVMQKVSV", "snv": [ { "evidence": [ { "id": "rs748463197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748463197" }, { "id": "rs748463197", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748463197" }, { "id": "rs748463197", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748463197#frequency_tab" }, { "id": "rs748463197", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748463197" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NMA->NMS).", "chr_id": "15", "chr_pos": "56654439", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A708", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748463197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748463197" }, { "id": "rs748463197", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748463197" }, { "id": "rs748463197", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs748463197#frequency_tab" }, { "id": "rs748463197", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748463197" } ], "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": "15", "chr_pos": "56654439", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A708", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q6N043-1.710.710", "categories": [ "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6N043-1.716.716", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q6N043-1.710.710", "start_pos": 710, "end_pos": 710, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs755457544", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755457544", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs755457544", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755457544", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs755457544", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs755457544", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LVCLNCDFLSDVSGLDNMAT", "down_seq": "LSQHKTHTCQVVMQKVSVCI", "snv": [ { "evidence": [ { "id": "rs755457544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755457544" }, { "id": "rs755457544", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755457544" }, { "id": "rs755457544", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs755457544" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HLS->NLS).", "chr_id": "15", "chr_pos": "56654433", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H710", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q6N043-1.708.708", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q6N043-1.716.716", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6N043-1.716.716", "start_pos": 716, "end_pos": 716, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1267383526", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1267383526", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1267383526", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1267383526#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1267383526", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1267383526", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "DFLSDVSGLDNMATHLSQHK", "down_seq": "HTCQVVMQKVSVCIPTSEHL", "snv": [ { "evidence": [ { "id": "rs1267383526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1267383526" }, { "id": "rs1267383526", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1267383526#frequency_tab" }, { "id": "rs1267383526", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1267383526" } ], "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 (THT->NHT).", "chr_id": "15", "chr_pos": "56654414", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T716", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q6N043-1.708.708", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q6N043-1.710.710", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6N043-1.761.761", "start_pos": 761, "end_pos": 761, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs868852954", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868852954", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs868852954", "url": "https://www.ensembl.org/id/rs868852954", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "KEAPAKEQEPVSKEIARPNM", "down_seq": "ERETETSNSESKQDKAASSK", "snv": [ { "evidence": [ { "id": "rs868852954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868852954" }, { "id": "rs868852954", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs868852954" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NMA->NMS).", "chr_id": "15", "chr_pos": "56635229", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A761", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "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": "Q6N043-1.77.77", "start_pos": 77, "end_pos": 77, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs748736243", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748736243", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs748736243", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748736243", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs748736243", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748736243", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs748736243", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs748736243", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "ISNILNRVNPSSYSRGLKNG", "down_seq": "LSRGITAAFKPTSQHYTNPT", "snv": [ { "evidence": [ { "id": "rs748736243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748736243" }, { "id": "rs748736243", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748736243" }, { "id": "rs748736243", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748736243" }, { "id": "rs748736243", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs748736243" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NGA->NGS).", "chr_id": "15", "chr_pos": "56701185", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A77", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs748736243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748736243" }, { "id": "rs748736243", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748736243" }, { "id": "rs748736243", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748736243" } ], "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": "15", "chr_pos": "56701185", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A77", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q6N043-1.66.66", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q6N043-1.90.90", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q6N043-1.94.94", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q6N043-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q6N043-1.97.97", "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" ] }, { "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": "Q6N043-1.802.802", "start_pos": 802, "end_pos": 802, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs745600359", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745600359", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs745600359", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745600359", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs745600359", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745600359#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs745600359", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745600359", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs745600359", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs745600359", "database": "COSMIC", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EKNGCNANSFEGSSTTKSEE", "down_seq": "ITVSDKENETCLADQETGSK", "snv": [ { "evidence": [ { "id": "rs745600359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745600359" }, { "id": "rs745600359", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745600359" }, { "id": "rs745600359", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745600359#frequency_tab" }, { "id": "rs745600359", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745600359" }, { "id": "rs745600359", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs745600359" } ], "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 (SIT->NIT).", "chr_id": "15", "chr_pos": "56632033", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S802", "keywords": [ "ebi", "somatic" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "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": "Q6N043-1.824.824", "start_pos": 824, "end_pos": 824, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2052096247", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2052096247", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2052096247", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2052096247", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "TVSDKENETCLADQETGSKN", "down_seq": "VSCDSNIGADKVEKKKQIQH", "snv": [ { "evidence": [ { "id": "rs2052096247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2052096247" }, { "id": "rs2052096247", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2052096247" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IVS->NVS).", "chr_id": "15", "chr_pos": "56631967", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I824", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "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": "Q6N043-1.852.852", "start_pos": 852, "end_pos": 852, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1384097996", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384097996", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1384097996", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1384097996#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1384097996", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1384097996", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GADKVEKKKQIQHVCQEMEL", "down_seq": "MCQSSENIILSDQIKDHNSS", "snv": [ { "evidence": [ { "id": "rs1384097996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384097996" }, { "id": "rs1384097996", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1384097996#frequency_tab" }, { "id": "rs1384097996", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1384097996" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KMC->NMC).", "chr_id": "15", "chr_pos": "56631882", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K852", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q6N043-1.861.861", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6N043-1.861.861", "start_pos": 861, "end_pos": 861, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs760795460", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760795460", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs760795460", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760795460", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs760795460", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760795460", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "QIQHVCQEMELKMCQSSENI", "down_seq": "LSDQIKDHNSSEARFSSKNI", "snv": [ { "evidence": [ { "id": "rs760795460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760795460" }, { "id": "rs760795460", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760795460" }, { "id": "rs760795460", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760795460" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NII->NIT).", "chr_id": "15", "chr_pos": "56631856", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I861", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q6N043-1.852.852", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q6N043-1.892.892", "start_pos": 892, "end_pos": 892, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs767680531", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767680531", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs767680531", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767680531", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs767680531", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767680531#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs767680531", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767680531", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1566921112", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1566921112", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1566921112", "url": "https://www.ensembl.org/id/rs1566921112", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SEARFSSKNIKDLRLASDNV", "down_seq": "IDQFLRKRHEPESVSSDVSE", "snv": [ { "evidence": [ { "id": "rs767680531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767680531" }, { "id": "rs767680531", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767680531" }, { "id": "rs767680531", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767680531#frequency_tab" }, { "id": "rs767680531", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767680531" } ], "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 (NVS->NVN).", "chr_id": "15", "chr_pos": "56631763", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S892", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1566921112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1566921112" }, { "id": "rs1566921112", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1566921112" } ], "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 (NVS->NVR).", "chr_id": "15", "chr_pos": "56631764", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S892", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q6N043-1.890.890", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q6N043-1.908.908", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q6N043-1.911.911", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "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": "Q6N043-1.937.937", "start_pos": 937, "end_pos": 937, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6N043", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6N043", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "HLEPLTPSEVLEYEATEILQ", "down_seq": "GSGDPSAKTDEVVSDQTDDI", "snv": [ { "evidence": [ { "id": "Q6N043", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6N043" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2617", "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": "15", "chr_pos": "56631627", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K937", "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": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "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": "Q6N043-1.96.96", "start_pos": 96, "end_pos": 96, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6N043", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6N043", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs2057032594", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2057032594", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2057032594", "url": "https://www.ensembl.org/id/rs2057032594", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "GALSRGITAAFKPTSQHYTN", "down_seq": "TSNPVPASPINFHPESRSSD", "snv": [ { "evidence": [ { "id": "Q6N043", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6N043" }, { "id": "rs2057032594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2057032594" }, { "id": "rs2057032594", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2057032594" } ], "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 (NPT->NST).", "chr_id": "15", "chr_pos": "56701028", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P96", "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": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q6N043-1.77.77", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q6N043-1.90.90", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q6N043-1.94.94", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q6N043-1.97.97", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6N043-1.98.98", "categories": [ "glycosylation_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6N043-1.104.104", "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": "Q6N043-1.104.104", "start_pos": 104, "end_pos": 104, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "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": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" }, { "database": "iPTMnet", "id": "Q6N043-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6N043", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AAFKPTSQHYTNPTSNPVPA", "down_seq": "PINFHPESRSSDSSVIVQPF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q6N043", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043" } ], "site_lbl": "Ser104" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q6N043-1.90.90", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q6N043-1.94.94", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q6N043-1.96.96", "categories": [ "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q6N043-1.97.97", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q6N043-1.98.98", "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": "Q6N043-1.194.194", "start_pos": 194, "end_pos": 194, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "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": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" }, { "database": "iPTMnet", "id": "Q6N043-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q6N043", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043", "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": "LSKRPSTSEVNNVNPKKPKP", "down_seq": "ESVSGANSSAVLPSVKSPSV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6N043", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser194" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q6N043-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q6N043-1.203.203", "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": "Q6N043-1.203.203", "start_pos": 203, "end_pos": 203, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "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": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" }, { "database": "iPTMnet", "id": "Q6N043-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q6N043", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043", "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": "VNNVNPKKPKPSESVSGANS", "down_seq": "AVLPSVKSPSVTSSQAMLAK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6N043", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser203" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q6N043-1.194.194", "categories": [ "phosphorylation_flag" ] }, { "distance": 8, "direction": "downstream", "id": "Q6N043-1.195.195", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q6N043-1.215.215", "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": "Q6N043-1.530.530", "start_pos": 530, "end_pos": 530, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "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": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" }, { "database": "iPTMnet", "id": "Q6N043-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043-1" } ], "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": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" }, { "database": "iPTMnet", "id": "Q6N043-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q6N043", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043", "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": "S", "start_aa": "S", "up_seq": "LPPGTKVTIRASVGPLQSGA", "down_seq": "PTPSISASASTLQLSPPRTK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6N043", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser530" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q6N043-1.515.515", "categories": [ "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q6N043-1.532.532", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 8, "direction": "upstream", "id": "Q6N043-1.538.538", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q6N043-1.545.545", "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": "Q6N043-1.545.545", "start_pos": 545, "end_pos": 545, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "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": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" }, { "database": "iPTMnet", "id": "Q6N043-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" }, { "database": "iPTMnet", "id": "Q6N043", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "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": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" }, { "database": "iPTMnet", "id": "Q6N043", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043" } ], "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": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" }, { "database": "iPTMnet", "id": "Q6N043-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336", "database": "PubMed", "categories": [ "Other" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q6N043", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043", "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": "LQSGASPTPSISASASTLQL", "down_seq": "PPRTKNITAKNPAKSNTSKP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q6N043", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6N043" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser545" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q6N043-1.530.530", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q6N043-1.532.532", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q6N043-1.538.538", "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": "Q6N043-1.908.908", "start_pos": 908, "end_pos": 908, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SDNVSIDQFLRKRHEPESVS", "down_seq": "DVSEQGSIHLEPLTPSEVLE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "site_lbl": "Ser908" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q6N043-1.890.890", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q6N043-1.892.892", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q6N043-1.911.911", "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": "Q6N043-1.911.911", "start_pos": 911, "end_pos": 911, "uniprot_canonical_ac": "Q6N043-1", "length": 979, "uniprot_id": "Z280D_HUMAN", "protein_name": "Zinc finger protein 280D", "refseq_ac": "NP_001002843", "refseq_name": "zinc finger protein 280D isoform 2", "gene_name": "ZNF280D", "gene_names_uniprotkb": "ZNF280D; KIAA1584; SUHW4; ZNF634", "gene_names_refseq": "SUHW4; ZNF280D; ZNF634", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043", "database": "UniProtKB", "categories": [ "Protein" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "VSIDQFLRKRHEPESVSSDV", "down_seq": "EQGSIHLEPLTPSEVLEYEA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6N043", "url": "https://www.uniprot.org/uniprotkb/Q6N043" } ], "site_lbl": "Ser911" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "215", "end_pos": "215" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "97", "end_pos": "97" }, { "start_pos": "98", "end_pos": "98" } ] }, { "type": "snv", "site_list": [ { "start_pos": "963", "end_pos": "963" }, { "start_pos": "10", "end_pos": "10" }, { "start_pos": "195", "end_pos": "195" }, { "start_pos": "215", "end_pos": "215" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "260", "end_pos": "260" }, { "start_pos": "302", "end_pos": "302" }, { "start_pos": "340", "end_pos": "340" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "515", "end_pos": "515" }, { "start_pos": "532", "end_pos": "532" }, { "start_pos": "538", "end_pos": "538" }, { "start_pos": "603", "end_pos": "603" }, { "start_pos": "607", "end_pos": "607" }, { "start_pos": "613", "end_pos": "613" }, { "start_pos": "654", "end_pos": "654" }, { "start_pos": "66", "end_pos": "66" }, { "start_pos": "671", "end_pos": "671" }, { "start_pos": "708", "end_pos": "708" }, { "start_pos": "710", "end_pos": "710" }, { "start_pos": "716", "end_pos": "716" }, { "start_pos": "761", "end_pos": "761" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "802", "end_pos": "802" }, { "start_pos": "824", "end_pos": "824" }, { "start_pos": "852", "end_pos": "852" }, { "start_pos": "861", "end_pos": "861" }, { "start_pos": "890", "end_pos": "890" }, { "start_pos": "892", "end_pos": "892" }, { "start_pos": "90", "end_pos": "90" }, { "start_pos": "937", "end_pos": "937" }, { "start_pos": "94", "end_pos": "94" }, { "start_pos": "96", "end_pos": "96" }, { "start_pos": "97", "end_pos": "97" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "104", "end_pos": "104" }, { "start_pos": "194", "end_pos": "194" }, { "start_pos": "203", "end_pos": "203" }, { "start_pos": "530", "end_pos": "530" }, { "start_pos": "545", "end_pos": "545" }, { "start_pos": "908", "end_pos": "908" }, { "start_pos": "911", "end_pos": "911" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q6N043-1.892.892", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q6N043-1.908.908", "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": "Q8IYP9-1.136.136", "start_pos": 136, "end_pos": 136, "uniprot_canonical_ac": "Q8IYP9-1", "length": 409, "uniprot_id": "ZDH23_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC23", "refseq_ac": "NP_775841", "refseq_name": "palmitoyltransferase ZDHHC23 isoform c", "gene_name": "ZDHHC23", "gene_names_uniprotkb": "ZDHHC23", "gene_names_refseq": "DHHC-23; NIDD; ZDHHC23", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IYP9", "url": "https://www.uniprot.org/uniprotkb/Q8IYP9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IYP9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IYP9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "VLTSLPVLALWYYYLTHRRK", "down_seq": "QTLFFLSLGLFSLGYMYYVF", "snv": [ { "evidence": [ { "id": "Q8IYP9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IYP9" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "113953944", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E136", "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: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": "136", "end_pos": "136" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "76", "end_pos": "76" } ] } ], "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": "Q8IYP9-1.236.236", "start_pos": 236, "end_pos": 236, "uniprot_canonical_ac": "Q8IYP9-1", "length": 409, "uniprot_id": "ZDH23_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC23", "refseq_ac": "NP_775841", "refseq_name": "palmitoyltransferase ZDHHC23 isoform c", "gene_name": "ZDHHC23", "gene_names_uniprotkb": "ZDHHC23", "gene_names_refseq": "DHHC-23; NIDD; ZDHHC23", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IYP9", "url": "https://www.uniprot.org/uniprotkb/Q8IYP9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IYP9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IYP9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KGQEKTKGFPGADMSGSLNN", "down_seq": "TTKDDPKGSSKMPAGSPTKA", "snv": [ { "evidence": [ { "id": "Q8IYP9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IYP9" } ], "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 (4).", "chr_id": "3", "chr_pos": "113954245", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R236", "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" } ] }, { "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": "136", "end_pos": "136" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "76", "end_pos": "76" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q8IYP9-1.243.243", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q8IYP9-1.247.247", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IYP9-1.243.243", "start_pos": 243, "end_pos": 243, "uniprot_canonical_ac": "Q8IYP9-1", "length": 409, "uniprot_id": "ZDH23_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC23", "refseq_ac": "NP_775841", "refseq_name": "palmitoyltransferase ZDHHC23 isoform c", "gene_name": "ZDHHC23", "gene_names_uniprotkb": "ZDHHC23", "gene_names_refseq": "DHHC-23; NIDD; ZDHHC23", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IYP9", "url": "https://www.uniprot.org/uniprotkb/Q8IYP9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IYP9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IYP9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GFPGADMSGSLNNRTTKDDP", "down_seq": "GSSKMPAGSPTKAKEDWCAK", "snv": [ { "evidence": [ { "id": "Q8IYP9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IYP9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "3", "chr_pos": "113954267", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K243", "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: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": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "76", "end_pos": "76" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q8IYP9-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8IYP9-1.247.247", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IYP9-1.247.247", "start_pos": 247, "end_pos": 247, "uniprot_canonical_ac": "Q8IYP9-1", "length": 409, "uniprot_id": "ZDH23_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC23", "refseq_ac": "NP_775841", "refseq_name": "palmitoyltransferase ZDHHC23 isoform c", "gene_name": "ZDHHC23", "gene_names_uniprotkb": "ZDHHC23", "gene_names_refseq": "DHHC-23; NIDD; ZDHHC23", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IYP9", "url": "https://www.uniprot.org/uniprotkb/Q8IYP9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IYP9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IYP9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "ADMSGSLNNRTTKDDPKGSS", "down_seq": "MPAGSPTKAKEDWCAKCQLV", "snv": [ { "evidence": [ { "id": "Q8IYP9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IYP9" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "113954278", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K247", "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: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: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": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "76", "end_pos": "76" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8IYP9-1.236.236", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8IYP9-1.243.243", "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": "Q8IYP9-1.35.35", "start_pos": 35, "end_pos": 35, "uniprot_canonical_ac": "Q8IYP9-1", "length": 409, "uniprot_id": "ZDH23_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC23", "refseq_ac": "NP_775841", "refseq_name": "palmitoyltransferase ZDHHC23 isoform c", "gene_name": "ZDHHC23", "gene_names_uniprotkb": "ZDHHC23", "gene_names_refseq": "DHHC-23; NIDD; ZDHHC23", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IYP9", "url": "https://www.uniprot.org/uniprotkb/Q8IYP9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IYP9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IYP9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "TEEPELEPLCCCEYIDRNGE", "down_seq": "NHVATCLCDCQDLDEGCDRW", "snv": [ { "evidence": [ { "id": "Q8IYP9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IYP9" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "113948907", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K35", "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": "snv", "site_list": [ { "start_pos": "136", "end_pos": "136" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "76", "end_pos": "76" } ] } ], "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": "Q8IYP9-1.76.76", "start_pos": 76, "end_pos": 76, "uniprot_canonical_ac": "Q8IYP9-1", "length": 409, "uniprot_id": "ZDH23_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC23", "refseq_ac": "NP_775841", "refseq_name": "palmitoyltransferase ZDHHC23 isoform c", "gene_name": "ZDHHC23", "gene_names_uniprotkb": "ZDHHC23", "gene_names_refseq": "DHHC-23; NIDD; ZDHHC23", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IYP9", "url": "https://www.uniprot.org/uniprotkb/Q8IYP9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IYP9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IYP9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ITCKSLQPETCERIMDTISD", "down_seq": "LRIPWLRGAKKVNISIIPPL", "snv": [ { "evidence": [ { "id": "Q8IYP9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IYP9" } ], "glycoeffect": [], "subjects_tested": "1906", "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": "113953765", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R76", "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: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": "136", "end_pos": "136" }, { "start_pos": "236", "end_pos": "236" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "247", "end_pos": "247" }, { "start_pos": "35", "end_pos": "35" }, { "start_pos": "76", "end_pos": "76" } ] } ], "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": "Q96IU2-1.34.34", "start_pos": 34, "end_pos": 34, "uniprot_canonical_ac": "Q96IU2-1", "length": 234, "uniprot_id": "ZBED3_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 3", "refseq_ac": "NP_001316493", "refseq_name": "zinc finger BED domain-containing protein 3", "gene_name": "ZBED3", "gene_names_uniprotkb": "ZBED3", "gene_names_refseq": "ZBED3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96IU2", "url": "https://www.uniprot.org/uniprotkb/Q96IU2" } ], "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": "rs1486476503", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486476503", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1486476503", "url": "https://www.ensembl.org/id/rs1486476503", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RGLDDAAARGGQCPGLGPAP", "down_seq": "PTPPGRLGAPYSEAWGYFHL", "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": "Thr34", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1486476503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486476503" }, { "id": "rs1486476503", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1486476503" } ], "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": "77077779", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.00313972", "site_lbl": "T34", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "34", "end_pos": "34" }, { "start_pos": "36", "end_pos": "36" } ] }, { "type": "snv", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "36", "end_pos": "36" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "109", "end_pos": "109" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q96IU2-1.36.36", "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": "Q96IU2-1.36.36", "start_pos": 36, "end_pos": 36, "uniprot_canonical_ac": "Q96IU2-1", "length": 234, "uniprot_id": "ZBED3_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 3", "refseq_ac": "NP_001316493", "refseq_name": "zinc finger BED domain-containing protein 3", "gene_name": "ZBED3", "gene_names_uniprotkb": "ZBED3", "gene_names_refseq": "ZBED3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96IU2", "url": "https://www.uniprot.org/uniprotkb/Q96IU2" } ], "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": "rs2150740663", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150740663", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2150740663", "url": "https://www.ensembl.org/id/rs2150740663", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LDDAAARGGQCPGLGPAPTP", "down_seq": "PPGRLGAPYSEAWGYFHLAP", "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": "Thr36", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs2150740663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2150740663" }, { "id": "rs2150740663", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2150740663" } ], "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": "77077773", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T36", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "34", "end_pos": "34" }, { "start_pos": "36", "end_pos": "36" } ] }, { "type": "snv", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "36", "end_pos": "36" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "109", "end_pos": "109" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q96IU2-1.34.34", "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": "Q96IU2-1.225.225", "start_pos": 225, "end_pos": 225, "uniprot_canonical_ac": "Q96IU2-1", "length": 234, "uniprot_id": "ZBED3_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 3", "refseq_ac": "NP_001316493", "refseq_name": "zinc finger BED domain-containing protein 3", "gene_name": "ZBED3", "gene_names_uniprotkb": "ZBED3", "gene_names_refseq": "ZBED3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96IU2", "url": "https://www.uniprot.org/uniprotkb/Q96IU2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1743026077", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1743026077", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1743026077", "url": "https://www.ensembl.org/id/rs1743026077", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "ALGWAPAAPPPLKDDPEGDR", "down_seq": "GCVITKVLL", "snv": [ { "evidence": [ { "id": "rs1743026077", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1743026077" }, { "id": "rs1743026077", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1743026077" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DGC->NGC).", "chr_id": "5", "chr_pos": "77077206", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D225", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "34", "end_pos": "34" }, { "start_pos": "36", "end_pos": "36" } ] }, { "type": "snv", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "36", "end_pos": "36" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "109", "end_pos": "109" } ] } ], "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": "Q96IU2-1.109.109", "start_pos": 109, "end_pos": 109, "uniprot_canonical_ac": "Q96IU2-1", "length": 234, "uniprot_id": "ZBED3_HUMAN", "protein_name": "Zinc finger BED domain-containing protein 3", "refseq_ac": "NP_001316493", "refseq_name": "zinc finger BED domain-containing protein 3", "gene_name": "ZBED3", "gene_names_uniprotkb": "ZBED3", "gene_names_refseq": "ZBED3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96IU2", "url": "https://www.uniprot.org/uniprotkb/Q96IU2" } ], "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": "Mol. 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": "Q96IU2", "url": "https://www.uniprot.org/uniprotkb/Q96IU2" }, { "database": "iPTMnet", "id": "Q96IU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96IU2" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] } ], "crossref": [ { "id": "Q96IU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96IU2", "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": "LWRHLRSAHRRELESSGAGS", "down_seq": "PPAAPCPPPPGPAAAPEGDW", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q96IU2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96IU2" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser109" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "34", "end_pos": "34" }, { "start_pos": "36", "end_pos": "36" } ] }, { "type": "snv", "site_list": [ { "start_pos": "225", "end_pos": "225" }, { "start_pos": "34", "end_pos": "34" }, { "start_pos": "36", "end_pos": "36" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "109", "end_pos": "109" } ] } ], "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": "Q9NXT0-1.36.36", "start_pos": 36, "end_pos": 36, "uniprot_canonical_ac": "Q9NXT0-1", "length": 402, "uniprot_id": "ZN586_HUMAN", "protein_name": "Zinc finger protein 586", "refseq_ac": "NP_001070894", "refseq_name": "zinc finger protein 586 isoform b", "gene_name": "ZNF586", "gene_names_uniprotkb": "ZNF586", "gene_names_refseq": "ZNF586", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NXT0", "url": "https://www.uniprot.org/uniprotkb/Q9NXT0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NXT0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NXT0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "TFEDVAVNFSLEEWSLLNEA", "down_seq": "RCLYRDVMLETLTLISSLGC", "snv": [ { "evidence": [ { "id": "Q9NXT0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NXT0" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "57790343", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q36", "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: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": "snv", "site_list": [ { "start_pos": "36", "end_pos": "36" }, { "start_pos": "383", "end_pos": "383" } ] } ], "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": "Q9NXT0-1.383.383", "start_pos": 383, "end_pos": 383, "uniprot_canonical_ac": "Q9NXT0-1", "length": 402, "uniprot_id": "ZN586_HUMAN", "protein_name": "Zinc finger protein 586", "refseq_ac": "NP_001070894", "refseq_name": "zinc finger protein 586 isoform b", "gene_name": "ZNF586", "gene_names_uniprotkb": "ZNF586", "gene_names_refseq": "ZNF586", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NXT0", "url": "https://www.uniprot.org/uniprotkb/Q9NXT0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NXT0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NXT0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "HLRVHTGERPYECIDCGKSF", "down_seq": "HSSSFRRHQRVHTGMRPYK", "snv": [ { "evidence": [ { "id": "Q9NXT0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NXT0" } ], "glycoeffect": [], "subjects_tested": "3601", "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": "57779734", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R383", "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": "36", "end_pos": "36" }, { "start_pos": "383", "end_pos": "383" } ] } ], "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": "Q96PM9-4.129.129", "start_pos": 129, "end_pos": 129, "uniprot_canonical_ac": "Q96PM9-4", "length": 386, "uniprot_id": "Z385A_HUMAN", "protein_name": "Zinc finger protein 385A", "refseq_ac": "NP_001124439", "refseq_name": "zinc finger protein 385A isoform a", "gene_name": "ZNF385A", "gene_names_uniprotkb": "ZNF385A; HZF; RZF; ZNF385", "gene_names_refseq": "HZF; RZF; ZFP385; ZNF385A; ZNF385", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96PM9", "url": "https://www.uniprot.org/uniprotkb/Q96PM9" } ], "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": "KTRGREPGVREPGDPAPPGS", "down_seq": "PTNGDGVAPRPVSMENGLGP", "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": "Thr129", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "129", "end_pos": "129" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "248", "end_pos": "248" } ] }, { "type": "snv", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "185", "end_pos": "185" }, { "start_pos": "248", "end_pos": "248" } ] } ], "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": 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": "Q96PM9-4.180.180", "start_pos": 180, "end_pos": 180, "uniprot_canonical_ac": "Q96PM9-4", "length": 386, "uniprot_id": "Z385A_HUMAN", "protein_name": "Zinc finger protein 385A", "refseq_ac": "NP_001124439", "refseq_name": "zinc finger protein 385A isoform a", "gene_name": "ZNF385A", "gene_names_uniprotkb": "ZNF385A; HZF; RZF; ZNF385", "gene_names_refseq": "HZF; RZF; ZFP385; ZNF385A; ZNF385", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96PM9", "url": "https://www.uniprot.org/uniprotkb/Q96PM9" } ], "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": "rs1412583898", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412583898", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1412583898", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1412583898", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1175568031", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1175568031", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1175568031", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1175568031", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "SPSPPSIPETGQGVTKGEGG", "down_seq": "PAPASLPGGSKEEEEKAKRL", "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": "Thr180", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1412583898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1412583898" }, { "id": "rs1412583898", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1412583898" } ], "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": "12", "chr_pos": "54371599", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T180", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1175568031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1175568031" }, { "id": "rs1175568031", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1175568031" } ], "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": "54371598", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T180", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "129", "end_pos": "129" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "248", "end_pos": "248" } ] }, { "type": "snv", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "185", "end_pos": "185" }, { "start_pos": "248", "end_pos": "248" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q96PM9-4.183.183", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q96PM9-4.185.185", "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": 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": "Q96PM9-4.248.248", "start_pos": 248, "end_pos": 248, "uniprot_canonical_ac": "Q96PM9-4", "length": 386, "uniprot_id": "Z385A_HUMAN", "protein_name": "Zinc finger protein 385A", "refseq_ac": "NP_001124439", "refseq_name": "zinc finger protein 385A isoform a", "gene_name": "ZNF385A", "gene_names_uniprotkb": "ZNF385A; HZF; RZF; ZNF385", "gene_names_refseq": "HZF; RZF; ZFP385; ZNF385A; ZNF385", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96PM9", "url": "https://www.uniprot.org/uniprotkb/Q96PM9" } ], "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": "Q96PM9", "url": "https://www.uniprot.org/uniprotkb/Q96PM9" }, { "database": "iPTMnet", "id": "Q96PM9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96PM9" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "GLY_001151", "url": "https://data.glygen.org/GLY_001151", "database": "GlyGen", "categories": [ "Other" ] }, { "id": "rs1410260522", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410260522", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1410260522", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1410260522#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1410260522", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1410260522", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs1443213701", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1443213701", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1443213701", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1443213701#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1443213701", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1443213701", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "Q96PM9", "url": "https://www.uniprot.org/uniprotkb/Q96PM9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96PM9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96PM9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ILEARSGLGPIKAYPRLGPP", "down_seq": "PGEPEAPAQDRTFHCEICNV", "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": "Thr248", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1410260522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410260522" }, { "id": "rs1410260522", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1410260522#frequency_tab" }, { "id": "rs1410260522", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1410260522" } ], "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": "54371018", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T248", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1410260522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1410260522" }, { "id": "rs1410260522", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1410260522#frequency_tab" }, { "id": "rs1410260522", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1410260522" } ], "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": "54371018", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T248", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1443213701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1443213701" }, { "id": "rs1443213701", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1443213701#frequency_tab" }, { "id": "rs1443213701", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1443213701" } ], "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": "12", "chr_pos": "54371019", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T248", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q96PM9", "url": "https://www.uniprot.org/uniprotkb/Q96PM9" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q96PM9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96PM9" } ], "site_lbl": "Thr248" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "129", "end_pos": "129" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "248", "end_pos": "248" } ] }, { "type": "snv", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "185", "end_pos": "185" }, { "start_pos": "248", "end_pos": "248" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q96PM9-4.238.238", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q96PM9-4.258.258", "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": 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": 1 } ], "sort_fields": [ "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q96PM9-4.183.183", "start_pos": 183, "end_pos": 183, "uniprot_canonical_ac": "Q96PM9-4", "length": 386, "uniprot_id": "Z385A_HUMAN", "protein_name": "Zinc finger protein 385A", "refseq_ac": "NP_001124439", "refseq_name": "zinc finger protein 385A isoform a", "gene_name": "ZNF385A", "gene_names_uniprotkb": "ZNF385A; HZF; RZF; ZNF385", "gene_names_refseq": "HZF; RZF; ZFP385; ZNF385A; ZNF385", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96PM9", "url": "https://www.uniprot.org/uniprotkb/Q96PM9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96PM9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96PM9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PPSIPETGQGVTKGEGGTPA", "down_seq": "ASLPGGSKEEEEKAKRLLYC", "snv": [ { "evidence": [ { "id": "Q96PM9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96PM9" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "2", "frequency": "0.3", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "54371589", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P183", "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": "129", "end_pos": "129" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "248", "end_pos": "248" } ] }, { "type": "snv", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "185", "end_pos": "185" }, { "start_pos": "248", "end_pos": "248" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q96PM9-4.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q96PM9-4.185.185", "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": "Q96PM9-4.238.238", "start_pos": 238, "end_pos": 238, "uniprot_canonical_ac": "Q96PM9-4", "length": 386, "uniprot_id": "Z385A_HUMAN", "protein_name": "Zinc finger protein 385A", "refseq_ac": "NP_001124439", "refseq_name": "zinc finger protein 385A isoform a", "gene_name": "ZNF385A", "gene_names_uniprotkb": "ZNF385A; HZF; RZF; ZNF385", "gene_names_refseq": "HZF; RZF; ZFP385; ZNF385A; ZNF385", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96PM9", "url": "https://www.uniprot.org/uniprotkb/Q96PM9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96PM9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96PM9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "AHNKGTKHKTILEARSGLGP", "down_seq": "KAYPRLGPPTPGEPEAPAQD", "snv": [ { "evidence": [ { "id": "Q96PM9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96PM9" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "I", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "54371047", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "I238", "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: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: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": "129", "end_pos": "129" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "248", "end_pos": "248" } ] }, { "type": "snv", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "185", "end_pos": "185" }, { "start_pos": "248", "end_pos": "248" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "upstream", "id": "Q96PM9-4.248.248", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q96PM9-4.258.258", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96PM9-4.258.258", "start_pos": 258, "end_pos": 258, "uniprot_canonical_ac": "Q96PM9-4", "length": 386, "uniprot_id": "Z385A_HUMAN", "protein_name": "Zinc finger protein 385A", "refseq_ac": "NP_001124439", "refseq_name": "zinc finger protein 385A isoform a", "gene_name": "ZNF385A", "gene_names_uniprotkb": "ZNF385A; HZF; RZF; ZNF385", "gene_names_refseq": "HZF; RZF; ZFP385; ZNF385A; ZNF385", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96PM9", "url": "https://www.uniprot.org/uniprotkb/Q96PM9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs902502019", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs902502019", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs902502019", "url": "https://www.ncbi.nlm.nih.gov/snp/rs902502019#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs902502019", "url": "http://gnomad.broadinstitute.org/awesome?query=rs902502019", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "IKAYPRLGPPTPGEPEAPAQ", "down_seq": "RTFHCEICNVKVNSEVQLKQ", "snv": [ { "evidence": [ { "id": "rs902502019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs902502019" }, { "id": "rs902502019", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs902502019#frequency_tab" }, { "id": "rs902502019", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs902502019" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DRT->NRT).", "chr_id": "12", "chr_pos": "54370989", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D258", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "129", "end_pos": "129" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "248", "end_pos": "248" } ] }, { "type": "snv", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "185", "end_pos": "185" }, { "start_pos": "248", "end_pos": "248" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q96PM9-4.238.238", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q96PM9-4.248.248", "categories": [ "glycosylation_flag", "snv_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": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q96PM9-4.301.301", "start_pos": 301, "end_pos": 301, "uniprot_canonical_ac": "Q96PM9-4", "length": 386, "uniprot_id": "Z385A_HUMAN", "protein_name": "Zinc finger protein 385A", "refseq_ac": "NP_001124439", "refseq_name": "zinc finger protein 385A isoform a", "gene_name": "ZNF385A", "gene_names_uniprotkb": "ZNF385A; HZF; RZF; ZNF385", "gene_names_refseq": "HZF; RZF; ZFP385; ZNF385A; ZNF385", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96PM9", "url": "https://www.uniprot.org/uniprotkb/Q96PM9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q96PM9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96PM9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "SSRRHRDGVAGKPNPLLSRH", "down_seq": "KSRGAGELAGTLTFSKELPK", "snv": [ { "evidence": [ { "id": "Q96PM9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q96PM9" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (KKS->NKS).", "chr_id": "12", "chr_pos": "54370653", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K301", "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": "129", "end_pos": "129" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "248", "end_pos": "248" } ] }, { "type": "snv", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "185", "end_pos": "185" }, { "start_pos": "248", "end_pos": "248" } ] } ], "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": "Q96PM9-4.185.185", "start_pos": 185, "end_pos": 185, "uniprot_canonical_ac": "Q96PM9-4", "length": 386, "uniprot_id": "Z385A_HUMAN", "protein_name": "Zinc finger protein 385A", "refseq_ac": "NP_001124439", "refseq_name": "zinc finger protein 385A isoform a", "gene_name": "ZNF385A", "gene_names_uniprotkb": "ZNF385A; HZF; RZF; ZNF385", "gene_names_refseq": "HZF; RZF; ZFP385; ZNF385A; ZNF385", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96PM9", "url": "https://www.uniprot.org/uniprotkb/Q96PM9" } ], "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": "Q96PM9", "url": "https://www.uniprot.org/uniprotkb/Q96PM9" }, { "database": "iPTMnet", "id": "Q96PM9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96PM9" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q96PM9", "url": "https://www.uniprot.org/uniprotkb/Q96PM9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q96PM9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96PM9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SIPETGQGVTKGEGGTPAPA", "down_seq": "LPGGSKEEEEKAKRLLYCAL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q96PM9", "url": "https://www.uniprot.org/uniprotkb/Q96PM9" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q96PM9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q96PM9" } ], "site_lbl": "Ser185" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "129", "end_pos": "129" }, { "start_pos": "180", "end_pos": "180" }, { "start_pos": "248", "end_pos": "248" } ] }, { "type": "snv", "site_list": [ { "start_pos": "180", "end_pos": "180" }, { "start_pos": "183", "end_pos": "183" }, { "start_pos": "238", "end_pos": "238" }, { "start_pos": "248", "end_pos": "248" }, { "start_pos": "258", "end_pos": "258" }, { "start_pos": "301", "end_pos": "301" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "185", "end_pos": "185" }, { "start_pos": "248", "end_pos": "248" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q96PM9-4.180.180", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q96PM9-4.183.183", "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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NX65-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q9NX65-1", "length": 697, "uniprot_id": "ZSC32_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 32", "refseq_ac": "NP_001271456", "refseq_name": "zinc finger and SCAN domain-containing protein 32 isoform a", "gene_name": "ZSCAN32", "gene_names_uniprotkb": "ZSCAN32; HCCS5; ZNF434", "gene_names_refseq": "HCCS-5; ZNF434; ZSCAN32", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NX65", "url": "https://www.uniprot.org/uniprotkb/Q9NX65" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "O-GlcNAc Transferase Recognizes Protein Substrates Using an Asparagine Ladder in the Tetratricopeptide Repeat (TPR) Superhelix.", "journal": "Journal of the American Chemical Society", "date": "2018", "authors": "Levine ZG, Fan C, Melicher MS, Orman M, Benjamin T, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q9NX65", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NX65" } ], "reference": [ { "type": "PubMed", "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866" } ] } ], "crossref": [ { "id": "29485866", "url": "https://glygen.org/publication/PubMed/29485866", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NX65", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NX65", "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": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "Q9NX65", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9NX65" } ] } ], "all_sites": [], "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": "Q8IZN3-1.410.410", "start_pos": 410, "end_pos": 410, "uniprot_canonical_ac": "Q8IZN3-1", "length": 488, "uniprot_id": "ZDH14_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC14", "refseq_ac": "NP_078906", "refseq_name": "palmitoyltransferase ZDHHC14 isoform 1", "gene_name": "ZDHHC14", "gene_names_uniprotkb": "ZDHHC14", "gene_names_refseq": "NEW1CP; ZDHHC14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3" } ], "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": "HLPGKPGLGTPCASLTLGPP", "down_seq": "PPASMPNLAEATLADVMPRK", "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": "Thr410", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "410", "end_pos": "410" } ] }, { "type": "snv", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "484", "end_pos": "484" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "455", "end_pos": "455" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q8IZN3-1.419.419", "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": "Q8IZN3-1.10.10", "start_pos": 10, "end_pos": 10, "uniprot_canonical_ac": "Q8IZN3-1", "length": 488, "uniprot_id": "ZDH14_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC14", "refseq_ac": "NP_078906", "refseq_name": "palmitoyltransferase ZDHHC14 isoform 1", "gene_name": "ZDHHC14", "gene_names_uniprotkb": "ZDHHC14", "gene_names_refseq": "NEW1CP; ZDHHC14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1223038516", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223038516", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1223038516", "url": "https://www.ensembl.org/id/rs1223038516", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "MPPGGGGPM", "down_seq": "DCEYSQISTHSSSPMESPHK", "snv": [ { "evidence": [ { "id": "rs1223038516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1223038516" }, { "id": "rs1223038516", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1223038516" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KDC->NDC).", "chr_id": "6", "chr_pos": "157382051", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K10", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "410", "end_pos": "410" } ] }, { "type": "snv", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "484", "end_pos": "484" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "455", "end_pos": "455" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q8IZN3-1.21.21", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZN3-1.185.185", "start_pos": 185, "end_pos": 185, "uniprot_canonical_ac": "Q8IZN3-1", "length": 488, "uniprot_id": "ZDH14_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC14", "refseq_ac": "NP_078906", "refseq_name": "palmitoyltransferase ZDHHC14 isoform 1", "gene_name": "ZDHHC14", "gene_names_uniprotkb": "ZDHHC14", "gene_names_refseq": "NEW1CP; ZDHHC14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1783982330", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1783982330", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1783982330", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1783982330", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KYCFTCKIFRPPRASHCSLC", "down_seq": "NCVERFDHHCPWVGNCVGKR", "snv": [ { "evidence": [ { "id": "rs1783982330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1783982330" }, { "id": "rs1783982330", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1783982330" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DNC->NNC).", "chr_id": "6", "chr_pos": "157593134", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D185", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "410", "end_pos": "410" } ] }, { "type": "snv", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "484", "end_pos": "484" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "455", "end_pos": "455" } ] } ], "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": "Q8IZN3-1.21.21", "start_pos": 21, "end_pos": 21, "uniprot_canonical_ac": "Q8IZN3-1", "length": 488, "uniprot_id": "ZDH14_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC14", "refseq_ac": "NP_078906", "refseq_name": "palmitoyltransferase ZDHHC14 isoform 1", "gene_name": "ZDHHC14", "gene_names_uniprotkb": "ZDHHC14", "gene_names_refseq": "NEW1CP; ZDHHC14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs780094207", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780094207", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs780094207", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780094207", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs780094207", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780094207", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MPPGGGGPMKDCEYSQISTH", "down_seq": "SSPMESPHKKKKIAARRKWE", "snv": [ { "evidence": [ { "id": "rs780094207", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780094207" }, { "id": "rs780094207", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780094207" }, { "id": "rs780094207", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780094207" } ], "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": "6", "chr_pos": "157382083", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S21", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "410", "end_pos": "410" } ] }, { "type": "snv", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "484", "end_pos": "484" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "455", "end_pos": "455" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q8IZN3-1.10.10", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZN3-1.287.287", "start_pos": 287, "end_pos": 287, "uniprot_canonical_ac": "Q8IZN3-1", "length": 488, "uniprot_id": "ZDH14_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC14", "refseq_ac": "NP_078906", "refseq_name": "palmitoyltransferase ZDHHC14 isoform 1", "gene_name": "ZDHHC14", "gene_names_uniprotkb": "ZDHHC14", "gene_names_refseq": "NEW1CP; ZDHHC14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1350135776", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1350135776", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1350135776", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1350135776#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1350135776", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1350135776", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GLSGFHTYLISSNQTTNEDI", "down_seq": "GSWSNKRGKENYNPYSYGNI", "snv": [ { "evidence": [ { "id": "rs1350135776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1350135776" }, { "id": "rs1350135776", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1350135776#frequency_tab" }, { "id": "rs1350135776", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1350135776" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KGS->NGS).", "chr_id": "6", "chr_pos": "157647264", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K287", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "410", "end_pos": "410" } ] }, { "type": "snv", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "484", "end_pos": "484" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "455", "end_pos": "455" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q8IZN3-1.294.294", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8IZN3-1.300.300", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZN3-1.294.294", "start_pos": 294, "end_pos": 294, "uniprot_canonical_ac": "Q8IZN3-1", "length": 488, "uniprot_id": "ZDH14_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC14", "refseq_ac": "NP_078906", "refseq_name": "palmitoyltransferase ZDHHC14 isoform 1", "gene_name": "ZDHHC14", "gene_names_uniprotkb": "ZDHHC14", "gene_names_refseq": "NEW1CP; ZDHHC14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1408180907", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408180907", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1408180907", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408180907", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YLISSNQTTNEDIKGSWSNK", "down_seq": "GKENYNPYSYGNIFTNCCVA", "snv": [ { "evidence": [ { "id": "rs1408180907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408180907" }, { "id": "rs1408180907", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408180907" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKR->NKS).", "chr_id": "6", "chr_pos": "157647285", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R294", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "410", "end_pos": "410" } ] }, { "type": "snv", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "484", "end_pos": "484" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "455", "end_pos": "455" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q8IZN3-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8IZN3-1.300.300", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZN3-1.300.300", "start_pos": 300, "end_pos": 300, "uniprot_canonical_ac": "Q8IZN3-1", "length": 488, "uniprot_id": "ZDH14_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC14", "refseq_ac": "NP_078906", "refseq_name": "palmitoyltransferase ZDHHC14 isoform 1", "gene_name": "ZDHHC14", "gene_names_uniprotkb": "ZDHHC14", "gene_names_refseq": "NEW1CP; ZDHHC14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2114983224", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2114983224", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2114983224", "url": "https://www.ensembl.org/id/rs2114983224", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "QTTNEDIKGSWSNKRGKENY", "down_seq": "PYSYGNIFTNCCVALCGPIS", "snv": [ { "evidence": [ { "id": "rs2114983224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2114983224" }, { "id": "rs2114983224", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2114983224" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NYN->NYS).", "chr_id": "6", "chr_pos": "157647302", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N300", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "410", "end_pos": "410" } ] }, { "type": "snv", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "484", "end_pos": "484" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "455", "end_pos": "455" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8IZN3-1.287.287", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8IZN3-1.294.294", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZN3-1.346.346", "start_pos": 346, "end_pos": 346, "uniprot_canonical_ac": "Q8IZN3-1", "length": 488, "uniprot_id": "ZDH14_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC14", "refseq_ac": "NP_078906", "refseq_name": "palmitoyltransferase ZDHHC14 isoform 1", "gene_name": "ZDHHC14", "gene_names_uniprotkb": "ZDHHC14", "gene_names_refseq": "NEW1CP; ZDHHC14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IZN3", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IZN3", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "RRGYIQPDTPQPAAPSNGIT", "down_seq": "YGATQSQSDMCDQDQCIQST", "snv": [ { "evidence": [ { "id": "Q8IZN3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IZN3" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "6", "chr_pos": "157653597", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M346", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "410", "end_pos": "410" } ] }, { "type": "snv", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "484", "end_pos": "484" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "455", "end_pos": "455" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "upstream", "id": "Q8IZN3-1.360.360", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_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": "Q8IZN3-1.360.360", "start_pos": 360, "end_pos": 360, "uniprot_canonical_ac": "Q8IZN3-1", "length": 488, "uniprot_id": "ZDH14_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC14", "refseq_ac": "NP_078906", "refseq_name": "palmitoyltransferase ZDHHC14 isoform 1", "gene_name": "ZDHHC14", "gene_names_uniprotkb": "ZDHHC14", "gene_names_refseq": "NEW1CP; ZDHHC14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs759700177", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759700177", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs759700177", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759700177", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs759700177", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759700177#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs759700177", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759700177", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "PSNGITMYGATQSQSDMCDQ", "down_seq": "QCIQSTKFVLQAAATPLLQS", "snv": [ { "evidence": [ { "id": "rs759700177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759700177" }, { "id": "rs759700177", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759700177" }, { "id": "rs759700177", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs759700177#frequency_tab" }, { "id": "rs759700177", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759700177" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DQC->NQC).", "chr_id": "6", "chr_pos": "157672733", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D360", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "410", "end_pos": "410" } ] }, { "type": "snv", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "484", "end_pos": "484" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "455", "end_pos": "455" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8IZN3-1.346.346", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IZN3-1.383.383", "start_pos": 383, "end_pos": 383, "uniprot_canonical_ac": "Q8IZN3-1", "length": 488, "uniprot_id": "ZDH14_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC14", "refseq_ac": "NP_078906", "refseq_name": "palmitoyltransferase ZDHHC14 isoform 1", "gene_name": "ZDHHC14", "gene_names_uniprotkb": "ZDHHC14", "gene_names_refseq": "NEW1CP; ZDHHC14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1439690550", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439690550", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1439690550", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1439690550#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "IQSTKFVLQAAATPLLQSEP", "down_seq": "LTSDELHLPGKPGLGTPCAS", "snv": [ { "evidence": [ { "id": "rs1439690550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439690550" }, { "id": "rs1439690550", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1439690550#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 (SLT->NLT).", "chr_id": "6", "chr_pos": "157672803", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S383", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "410", "end_pos": "410" } ] }, { "type": "snv", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "484", "end_pos": "484" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "455", "end_pos": "455" } ] } ], "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": "Q8IZN3-1.419.419", "start_pos": 419, "end_pos": 419, "uniprot_canonical_ac": "Q8IZN3-1", "length": 488, "uniprot_id": "ZDH14_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC14", "refseq_ac": "NP_078906", "refseq_name": "palmitoyltransferase ZDHHC14 isoform 1", "gene_name": "ZDHHC14", "gene_names_uniprotkb": "ZDHHC14", "gene_names_refseq": "NEW1CP; ZDHHC14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs73571886", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs73571886", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs73571886", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs73571886", "database": "1000Genomes", "categories": [ "Other" ] }, { "id": "rs73571886", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs73571886", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs73571886", "url": "https://www.ncbi.nlm.nih.gov/snp/rs73571886#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs73571886", "url": "http://gnomad.broadinstitute.org/awesome?query=rs73571886", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "TPCASLTLGPPTPPASMPNL", "down_seq": "EATLADVMPRKDEHMGHQFL", "snv": [ { "evidence": [ { "id": "rs73571886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs73571886" }, { "id": "rs73571886", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs73571886" }, { "id": "rs73571886", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs73571886" }, { "id": "rs73571886", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs73571886#frequency_tab" }, { "id": "rs73571886", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs73571886" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLS).", "chr_id": "6", "chr_pos": "157672910", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.0060832", "site_lbl": "A419", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs73571886", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs73571886" }, { "id": "rs73571886", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs73571886" }, { "id": "rs73571886", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs73571886" }, { "id": "rs73571886", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs73571886#frequency_tab" }, { "id": "rs73571886", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs73571886" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "6", "chr_pos": "157672910", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0060832", "site_lbl": "A419", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "410", "end_pos": "410" } ] }, { "type": "snv", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "484", "end_pos": "484" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "455", "end_pos": "455" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8IZN3-1.410.410", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "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": "Q8IZN3-1.484.484", "start_pos": 484, "end_pos": 484, "uniprot_canonical_ac": "Q8IZN3-1", "length": 488, "uniprot_id": "ZDH14_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC14", "refseq_ac": "NP_078906", "refseq_name": "palmitoyltransferase ZDHHC14 isoform 1", "gene_name": "ZDHHC14", "gene_names_uniprotkb": "ZDHHC14", "gene_names_refseq": "NEW1CP; ZDHHC14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1191260565", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191260565", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1191260565", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1191260565#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "HVLGLASQDSLHEDSVRGLV", "down_seq": "LSSV", "snv": [ { "evidence": [ { "id": "rs1191260565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1191260565" }, { "id": "rs1191260565", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1191260565#frequency_tab" } ], "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": "6", "chr_pos": "157673107", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K484", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "410", "end_pos": "410" } ] }, { "type": "snv", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "484", "end_pos": "484" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "455", "end_pos": "455" } ] } ], "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": "Q8IZN3-1.455.455", "start_pos": 455, "end_pos": 455, "uniprot_canonical_ac": "Q8IZN3-1", "length": 488, "uniprot_id": "ZDH14_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC14", "refseq_ac": "NP_078906", "refseq_name": "palmitoyltransferase ZDHHC14 isoform 1", "gene_name": "ZDHHC14", "gene_names_uniprotkb": "ZDHHC14", "gene_names_refseq": "NEW1CP; ZDHHC14", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3" } ], "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": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3" }, { "database": "iPTMnet", "id": "Q8IZN3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IZN3-1" } ], "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": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3" }, { "database": "iPTMnet", "id": "Q8IZN3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IZN3-1" } ], "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": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3" }, { "database": "iPTMnet", "id": "Q8IZN3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IZN3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3", "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": "Q8IZN3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IZN3", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GHQFLTPDEAPSPPRLLAAG", "down_seq": "PLAHSRTMHVLGLASQDSLH", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IZN3", "url": "https://www.uniprot.org/uniprotkb/Q8IZN3" }, { "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": "Q8IZN3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IZN3" } ], "site_lbl": "Ser455" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "410", "end_pos": "410" } ] }, { "type": "snv", "site_list": [ { "start_pos": "10", "end_pos": "10" }, { "start_pos": "185", "end_pos": "185" }, { "start_pos": "21", "end_pos": "21" }, { "start_pos": "287", "end_pos": "287" }, { "start_pos": "294", "end_pos": "294" }, { "start_pos": "300", "end_pos": "300" }, { "start_pos": "346", "end_pos": "346" }, { "start_pos": "360", "end_pos": "360" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "484", "end_pos": "484" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "455", "end_pos": "455" } ] } ], "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "A6NK75-1.102.102", "start_pos": 102, "end_pos": 102, "uniprot_canonical_ac": "A6NK75-1", "length": 572, "uniprot_id": "ZNF98_HUMAN", "protein_name": "Zinc finger protein 98", "refseq_ac": "NP_001092096", "refseq_name": "zinc finger protein 98", "gene_name": "ZNF98", "gene_names_uniprotkb": "ZNF98; ZNF739", "gene_names_refseq": "F7175; ZNF739; ZNF98", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NK75", "url": "https://www.uniprot.org/uniprotkb/A6NK75" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NK75", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "EPPVVYSYFAQDLWPKQGKK", "down_seq": "YFQKVILRTYKKCGRENLQL", "snv": [ { "evidence": [ { "id": "A6NK75", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75" } ], "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 (7).", "chr_id": "19", "chr_pos": "22392929", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "N102", "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: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: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" } ] }, { "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": "102", "end_pos": "102" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "A6NK75-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "downstream", "id": "A6NK75-1.88.88", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "A6NK75-1.123.123", "start_pos": 123, "end_pos": 123, "uniprot_canonical_ac": "A6NK75-1", "length": 572, "uniprot_id": "ZNF98_HUMAN", "protein_name": "Zinc finger protein 98", "refseq_ac": "NP_001092096", "refseq_name": "zinc finger protein 98", "gene_name": "ZNF98", "gene_names_uniprotkb": "ZNF98; ZNF739", "gene_names_refseq": "F7175; ZNF739; ZNF98", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NK75", "url": "https://www.uniprot.org/uniprotkb/A6NK75" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NK75", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YFQKVILRTYKKCGRENLQL", "down_seq": "KYCKSMDECKVHKECYNGLN", "snv": [ { "evidence": [ { "id": "A6NK75", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "22392868", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R123", "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" } ] }, { "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": "102", "end_pos": "102" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" } ] } ], "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": "A6NK75-1.156.156", "start_pos": 156, "end_pos": 156, "uniprot_canonical_ac": "A6NK75-1", "length": 572, "uniprot_id": "ZNF98_HUMAN", "protein_name": "Zinc finger protein 98", "refseq_ac": "NP_001092096", "refseq_name": "zinc finger protein 98", "gene_name": "ZNF98", "gene_names_uniprotkb": "ZNF98; ZNF739", "gene_names_refseq": "F7175; ZNF739; ZNF98", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NK75", "url": "https://www.uniprot.org/uniprotkb/A6NK75" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NK75", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "KECYNGLNQCLTTTQNKIFQ", "down_seq": "DKYVKVFHKFSNSNRHKIGH", "snv": [ { "evidence": [ { "id": "A6NK75", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "22392768", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y156", "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: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": "102", "end_pos": "102" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" } ] } ], "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": "A6NK75-1.351.351", "start_pos": 351, "end_pos": 351, "uniprot_canonical_ac": "A6NK75-1", "length": 572, "uniprot_id": "ZNF98_HUMAN", "protein_name": "Zinc finger protein 98", "refseq_ac": "NP_001092096", "refseq_name": "zinc finger protein 98", "gene_name": "ZNF98", "gene_names_uniprotkb": "ZNF98; ZNF739", "gene_names_refseq": "F7175; ZNF739; ZNF98", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NK75", "url": "https://www.uniprot.org/uniprotkb/A6NK75" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NK75", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "FSQSSTLTTHKIIHTGEKFY", "down_seq": "CEECGKAFSRLSHLTTHKRI", "snv": [ { "evidence": [ { "id": "A6NK75", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "22392183", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K351", "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: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": "102", "end_pos": "102" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" } ] } ], "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": "A6NK75-1.426.426", "start_pos": 426, "end_pos": 426, "uniprot_canonical_ac": "A6NK75-1", "length": 572, "uniprot_id": "ZNF98_HUMAN", "protein_name": "Zinc finger protein 98", "refseq_ac": "NP_001092096", "refseq_name": "zinc finger protein 98", "gene_name": "ZNF98", "gene_names_uniprotkb": "ZNF98; ZNF739", "gene_names_refseq": "F7175; ZNF739; ZNF98", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NK75", "url": "https://www.uniprot.org/uniprotkb/A6NK75" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NK75", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YKCEVCSKAFSRFSHLTTHK", "down_seq": "IHTGEKPYKCEECGKAFNLS", "snv": [ { "evidence": [ { "id": "A6NK75", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "22391958", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R426", "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: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": "102", "end_pos": "102" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" } ] } ], "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": "A6NK75-1.466.466", "start_pos": 466, "end_pos": 466, "uniprot_canonical_ac": "A6NK75-1", "length": 572, "uniprot_id": "ZNF98_HUMAN", "protein_name": "Zinc finger protein 98", "refseq_ac": "NP_001092096", "refseq_name": "zinc finger protein 98", "gene_name": "ZNF98", "gene_names_uniprotkb": "ZNF98; ZNF739", "gene_names_refseq": "F7175; ZNF739; ZNF98", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NK75", "url": "https://www.uniprot.org/uniprotkb/A6NK75" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NK75", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SSQLTTHKIIHTGEKPYKCE", "down_seq": "CGKAFNQSSTLSKHKVIHTG", "snv": [ { "evidence": [ { "id": "A6NK75", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75" } ], "glycoeffect": [], "subjects_tested": "1773", "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": "22391839", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E466", "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": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" } ] } ], "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": "A6NK75-1.510.510", "start_pos": 510, "end_pos": 510, "uniprot_canonical_ac": "A6NK75-1", "length": 572, "uniprot_id": "ZNF98_HUMAN", "protein_name": "Zinc finger protein 98", "refseq_ac": "NP_001092096", "refseq_name": "zinc finger protein 98", "gene_name": "ZNF98", "gene_names_uniprotkb": "ZNF98; ZNF739", "gene_names_refseq": "F7175; ZNF739; ZNF98", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NK75", "url": "https://www.uniprot.org/uniprotkb/A6NK75" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NK75", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "YKCEECGKAFNQSSHLTTHK", "down_seq": "IHTGEKPYKCEECGKAFNNS", "snv": [ { "evidence": [ { "id": "A6NK75", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "22391705", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M510", "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: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": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" } ] } ], "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": "A6NK75-1.566.566", "start_pos": 566, "end_pos": 566, "uniprot_canonical_ac": "A6NK75-1", "length": 572, "uniprot_id": "ZNF98_HUMAN", "protein_name": "Zinc finger protein 98", "refseq_ac": "NP_001092096", "refseq_name": "zinc finger protein 98", "gene_name": "ZNF98", "gene_names_uniprotkb": "ZNF98; ZNF739", "gene_names_refseq": "F7175; ZNF739; ZNF98", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NK75", "url": "https://www.uniprot.org/uniprotkb/A6NK75" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NK75", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YKPESCNNACDNIAKISKYK", "down_seq": "NCAGEK", "snv": [ { "evidence": [ { "id": "A6NK75", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "22391538", "ref_nt": "C", "alt_nt": "A", "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" } ] }, { "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": "102", "end_pos": "102" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" } ] } ], "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": "A6NK75-1.70.70", "start_pos": 70, "end_pos": 70, "uniprot_canonical_ac": "A6NK75-1", "length": 572, "uniprot_id": "ZNF98_HUMAN", "protein_name": "Zinc finger protein 98", "refseq_ac": "NP_001092096", "refseq_name": "zinc finger protein 98", "gene_name": "ZNF98", "gene_names_uniprotkb": "ZNF98; ZNF739", "gene_names_refseq": "F7175; ZNF739; ZNF98", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NK75", "url": "https://www.uniprot.org/uniprotkb/A6NK75" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NK75", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "VFVGIAASKPDLITCLEQGK", "down_seq": "PWNVKRHEMVTEPPVVYSYF", "snv": [ { "evidence": [ { "id": "A6NK75", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "22402834", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E70", "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": "102", "end_pos": "102" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "upstream", "id": "A6NK75-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "upstream", "id": "A6NK75-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 18, "direction": "upstream", "id": "A6NK75-1.88.88", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "A6NK75-1.76.76", "start_pos": 76, "end_pos": 76, "uniprot_canonical_ac": "A6NK75-1", "length": 572, "uniprot_id": "ZNF98_HUMAN", "protein_name": "Zinc finger protein 98", "refseq_ac": "NP_001092096", "refseq_name": "zinc finger protein 98", "gene_name": "ZNF98", "gene_names_uniprotkb": "ZNF98; ZNF739", "gene_names_refseq": "F7175; ZNF739; ZNF98", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NK75", "url": "https://www.uniprot.org/uniprotkb/A6NK75" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NK75", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ASKPDLITCLEQGKEPWNVK", "down_seq": "HEMVTEPPVVYSYFAQDLWP", "snv": [ { "evidence": [ { "id": "A6NK75", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "22402815", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R76", "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: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": "102", "end_pos": "102" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "A6NK75-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "A6NK75-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "A6NK75-1.88.88", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "A6NK75-1.87.87", "start_pos": 87, "end_pos": 87, "uniprot_canonical_ac": "A6NK75-1", "length": 572, "uniprot_id": "ZNF98_HUMAN", "protein_name": "Zinc finger protein 98", "refseq_ac": "NP_001092096", "refseq_name": "zinc finger protein 98", "gene_name": "ZNF98", "gene_names_uniprotkb": "ZNF98; ZNF739", "gene_names_refseq": "F7175; ZNF739; ZNF98", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NK75", "url": "https://www.uniprot.org/uniprotkb/A6NK75" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NK75", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "QGKEPWNVKRHEMVTEPPVV", "down_seq": "SYFAQDLWPKQGKKNYFQKV", "snv": [ { "evidence": [ { "id": "A6NK75", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "19", "chr_pos": "22392975", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y87", "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: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: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": "102", "end_pos": "102" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "A6NK75-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "A6NK75-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "A6NK75-1.88.88", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "A6NK75-1.102.102", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "A6NK75-1.88.88", "start_pos": 88, "end_pos": 88, "uniprot_canonical_ac": "A6NK75-1", "length": 572, "uniprot_id": "ZNF98_HUMAN", "protein_name": "Zinc finger protein 98", "refseq_ac": "NP_001092096", "refseq_name": "zinc finger protein 98", "gene_name": "ZNF98", "gene_names_uniprotkb": "ZNF98; ZNF739", "gene_names_refseq": "F7175; ZNF739; ZNF98", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NK75", "url": "https://www.uniprot.org/uniprotkb/A6NK75" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A6NK75", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GKEPWNVKRHEMVTEPPVVY", "down_seq": "YFAQDLWPKQGKKNYFQKVI", "snv": [ { "evidence": [ { "id": "A6NK75", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A6NK75" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "22392972", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S88", "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": "snv", "site_list": [ { "start_pos": "102", "end_pos": "102" }, { "start_pos": "123", "end_pos": "123" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "351", "end_pos": "351" }, { "start_pos": "426", "end_pos": "426" }, { "start_pos": "466", "end_pos": "466" }, { "start_pos": "510", "end_pos": "510" }, { "start_pos": "566", "end_pos": "566" }, { "start_pos": "70", "end_pos": "70" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "87", "end_pos": "87" }, { "start_pos": "88", "end_pos": "88" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "A6NK75-1.70.70", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "downstream", "id": "A6NK75-1.76.76", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "A6NK75-1.87.87", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "A6NK75-1.102.102", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q03938-1.179.179", "start_pos": 179, "end_pos": 179, "uniprot_canonical_ac": "Q03938-1", "length": 601, "uniprot_id": "ZNF90_HUMAN", "protein_name": "Zinc finger protein 90", "refseq_ac": "NP_009069", "refseq_name": "zinc finger protein 90", "gene_name": "ZNF90", "gene_names_uniprotkb": "ZNF90", "gene_names_refseq": "HTF9; ZNF90", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03938", "url": "https://www.uniprot.org/uniprotkb/Q03938" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03938", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "NSNRHKIRDTGKKPFKCIEC", "down_seq": "KAFNQSSTLATHKKIHTGEI", "snv": [ { "evidence": [ { "id": "Q03938", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "G", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "19", "chr_pos": "20118089", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G179", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "179", "end_pos": "179" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "534", "end_pos": "534" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "297", "end_pos": "297" } ] } ], "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": "Q03938-1.26.26", "start_pos": 26, "end_pos": 26, "uniprot_canonical_ac": "Q03938-1", "length": 601, "uniprot_id": "ZNF90_HUMAN", "protein_name": "Zinc finger protein 90", "refseq_ac": "NP_009069", "refseq_name": "zinc finger protein 90", "gene_name": "ZNF90", "gene_names_uniprotkb": "ZNF90", "gene_names_refseq": "HTF9; ZNF90", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03938", "url": "https://www.uniprot.org/uniprotkb/Q03938" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03938", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "Q", "start_aa": "Q", "up_seq": "FRDVAIEFSLEEWHCLDTAQ", "down_seq": "NLYRDVMLENYRHLVFLGIV", "snv": [ { "evidence": [ { "id": "Q03938", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "20104313", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q26", "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": "179", "end_pos": "179" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "534", "end_pos": "534" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "297", "end_pos": "297" } ] } ], "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": "Q03938-1.306.306", "start_pos": 306, "end_pos": 306, "uniprot_canonical_ac": "Q03938-1", "length": 601, "uniprot_id": "ZNF90_HUMAN", "protein_name": "Zinc finger protein 90", "refseq_ac": "NP_009069", "refseq_name": "zinc finger protein 90", "gene_name": "ZNF90", "gene_names_uniprotkb": "ZNF90", "gene_names_refseq": "HTF9; ZNF90", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03938", "url": "https://www.uniprot.org/uniprotkb/Q03938" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03938", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KCDKCGRAFISSSILYVHKI", "down_seq": "HTEEKPYKCEECGKAFKLSS", "snv": [ { "evidence": [ { "id": "Q03938", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "20118471", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S306", "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: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": "179", "end_pos": "179" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "534", "end_pos": "534" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "297", "end_pos": "297" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q03938-1.297.297", "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": "Q03938-1.333.333", "start_pos": 333, "end_pos": 333, "uniprot_canonical_ac": "Q03938-1", "length": 601, "uniprot_id": "ZNF90_HUMAN", "protein_name": "Zinc finger protein 90", "refseq_ac": "NP_009069", "refseq_name": "zinc finger protein 90", "gene_name": "ZNF90", "gene_names_uniprotkb": "ZNF90", "gene_names_refseq": "HTF9; ZNF90", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03938", "url": "https://www.uniprot.org/uniprotkb/Q03938" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03938", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YKCEECGKAFKLSSILSTHK", "down_seq": "IHTGEKPYKCEECGKAFRRS", "snv": [ { "evidence": [ { "id": "Q03938", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "20118552", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R333", "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: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": "179", "end_pos": "179" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "534", "end_pos": "534" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "297", "end_pos": "297" } ] } ], "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": "Q03938-1.356.356", "start_pos": 356, "end_pos": 356, "uniprot_canonical_ac": "Q03938-1", "length": 601, "uniprot_id": "ZNF90_HUMAN", "protein_name": "Zinc finger protein 90", "refseq_ac": "NP_009069", "refseq_name": "zinc finger protein 90", "gene_name": "ZNF90", "gene_names_uniprotkb": "ZNF90", "gene_names_refseq": "HTF9; ZNF90", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03938", "url": "https://www.uniprot.org/uniprotkb/Q03938" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03938", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "TGEKPYKCEECGKAFRRSLV", "down_seq": "RTHKRIHTGEKPYKCDKCGK", "snv": [ { "evidence": [ { "id": "Q03938", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "20118620", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L356", "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: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": "179", "end_pos": "179" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "534", "end_pos": "534" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "297", "end_pos": "297" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "upstream", "id": "Q03938-1.361.361", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q03938-1.361.361", "start_pos": 361, "end_pos": 361, "uniprot_canonical_ac": "Q03938-1", "length": 601, "uniprot_id": "ZNF90_HUMAN", "protein_name": "Zinc finger protein 90", "refseq_ac": "NP_009069", "refseq_name": "zinc finger protein 90", "gene_name": "ZNF90", "gene_names_uniprotkb": "ZNF90", "gene_names_refseq": "HTF9; ZNF90", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03938", "url": "https://www.uniprot.org/uniprotkb/Q03938" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03938", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YKCEECGKAFRRSLVLRTHK", "down_seq": "IHTGEKPYKCDKCGKAFISS", "snv": [ { "evidence": [ { "id": "Q03938", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "20118636", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R361", "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: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": "179", "end_pos": "179" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "534", "end_pos": "534" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "297", "end_pos": "297" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q03938-1.356.356", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q03938-1.448.448", "start_pos": 448, "end_pos": 448, "uniprot_canonical_ac": "Q03938-1", "length": 601, "uniprot_id": "ZNF90_HUMAN", "protein_name": "Zinc finger protein 90", "refseq_ac": "NP_009069", "refseq_name": "zinc finger protein 90", "gene_name": "ZNF90", "gene_names_uniprotkb": "ZNF90", "gene_names_refseq": "HTF9; ZNF90", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03938", "url": "https://www.uniprot.org/uniprotkb/Q03938" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03938", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "QECDKVFKRSSALSTHKIIH", "down_seq": "GEKPYKCEECGKAFKRSSNL", "snv": [ { "evidence": [ { "id": "Q03938", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "3", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "19", "chr_pos": "20118897", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S448", "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: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: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": "179", "end_pos": "179" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "534", "end_pos": "534" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "297", "end_pos": "297" } ] } ], "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": "Q03938-1.507.507", "start_pos": 507, "end_pos": 507, "uniprot_canonical_ac": "Q03938-1", "length": 601, "uniprot_id": "ZNF90_HUMAN", "protein_name": "Zinc finger protein 90", "refseq_ac": "NP_009069", "refseq_name": "zinc finger protein 90", "gene_name": "ZNF90", "gene_names_uniprotkb": "ZNF90", "gene_names_refseq": "HTF9; ZNF90", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03938", "url": "https://www.uniprot.org/uniprotkb/Q03938" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03938", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "DKAFKYSSALSTHKIIHSGE", "down_seq": "PYKCEECGKAFKRSSVLSKH", "snv": [ { "evidence": [ { "id": "Q03938", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938" } ], "glycoeffect": [], "subjects_tested": "2003", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "20119075", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "N507", "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: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" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "179", "end_pos": "179" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "534", "end_pos": "534" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "297", "end_pos": "297" } ] } ], "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": "Q03938-1.534.534", "start_pos": 534, "end_pos": 534, "uniprot_canonical_ac": "Q03938-1", "length": 601, "uniprot_id": "ZNF90_HUMAN", "protein_name": "Zinc finger protein 90", "refseq_ac": "NP_009069", "refseq_name": "zinc finger protein 90", "gene_name": "ZNF90", "gene_names_uniprotkb": "ZNF90", "gene_names_refseq": "HTF9; ZNF90", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03938", "url": "https://www.uniprot.org/uniprotkb/Q03938" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q03938", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "CGKAFKRSSVLSKHKIIHTG", "down_seq": "KPYKCEECGKAFKRSSQLTS", "snv": [ { "evidence": [ { "id": "Q03938", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q03938" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "5", "frequency": "0.2", "sequence_org": "A", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: num. of cancers (5).", "chr_id": "19", "chr_pos": "20119155", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A534", "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: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: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "179", "end_pos": "179" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "534", "end_pos": "534" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "297", "end_pos": "297" } ] } ], "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": "Q03938-1.297.297", "start_pos": 297, "end_pos": 297, "uniprot_canonical_ac": "Q03938-1", "length": 601, "uniprot_id": "ZNF90_HUMAN", "protein_name": "Zinc finger protein 90", "refseq_ac": "NP_009069", "refseq_name": "zinc finger protein 90", "gene_name": "ZNF90", "gene_names_uniprotkb": "ZNF90", "gene_names_refseq": "HTF9; ZNF90", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q03938", "url": "https://www.uniprot.org/uniprotkb/Q03938" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Pre-fractionation Extends but also Creates a Bias in the Detectable HLA Class \u0399 Ligandome.", "journal": "Journal of proteome research", "date": "2019-04-05", "authors": "Demmers Laura C, Heck Albert J R, Wu Wei", "evidence": [ { "database": "iPTMnet", "id": "Q03938", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03938" } ], "reference": [ { "type": "PubMed", "id": "30784271", "url": "https://glygen.org/publication/PubMed/30784271" } ] } ], "crossref": [ { "id": "Q03938", "url": "https://www.iedb.org/epitope/Q03938", "database": "IEDB", "categories": [ "Other" ] }, { "id": "Q03938", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03938", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "30784271", "url": "https://glygen.org/publication/PubMed/30784271", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RIHTGEKPYKCDKCGRAFIS", "down_seq": "SILYVHKISHTEEKPYKCEE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "IEDB", "id": "Q03938", "url": "https://www.iedb.org/epitope/Q03938" }, { "database": "iPTMnet", "id": "Q03938", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q03938" }, { "database": "PubMed", "id": "30784271", "url": "https://glygen.org/publication/PubMed/30784271" } ], "site_lbl": "Ser297" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "179", "end_pos": "179" }, { "start_pos": "26", "end_pos": "26" }, { "start_pos": "306", "end_pos": "306" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "356", "end_pos": "356" }, { "start_pos": "361", "end_pos": "361" }, { "start_pos": "448", "end_pos": "448" }, { "start_pos": "507", "end_pos": "507" }, { "start_pos": "534", "end_pos": "534" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "297", "end_pos": "297" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q03938-1.306.306", "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": "Q8NEW0-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q8NEW0-1", "length": 376, "uniprot_id": "ZNT7_HUMAN", "protein_name": "Zinc transporter 7", "refseq_ac": "NP_001138356", "refseq_name": "zinc transporter 7", "gene_name": "SLC30A7", "gene_names_uniprotkb": "SLC30A7; ZNT7; ZNTL2", "gene_names_refseq": "SLC30A7; ZHS; ZNT7; ZnT-7; ZnTL2", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8NEW0", "url": "https://www.uniprot.org/uniprotkb/Q8NEW0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q8NEW0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NEW0" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] } ], "crossref": [ { "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8NEW0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NEW0", "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": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "Q8NEW0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8NEW0" } ] } ], "all_sites": [], "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": "Q8N5P1-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q8N5P1-1", "length": 291, "uniprot_id": "ZC3H8_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 8", "refseq_ac": "NP_115883", "refseq_name": "zinc finger CCCH domain-containing protein 8", "gene_name": "ZC3H8", "gene_names_uniprotkb": "ZC3H8; ZC3HDC8", "gene_names_refseq": "Fliz1; ZC3H8; ZC3HDC8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" } ], "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": "Q8N5P1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N5P1" } ], "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": "Q8N5P1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N5P1", "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": "Q8N5P1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N5P1" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "19", "end_pos": "19" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "199", "end_pos": "199" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q8N5P1-1.19.19", "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": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q8N5P1-1.146.146", "start_pos": 146, "end_pos": 146, "uniprot_canonical_ac": "Q8N5P1-1", "length": 291, "uniprot_id": "ZC3H8_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 8", "refseq_ac": "NP_115883", "refseq_name": "zinc finger CCCH domain-containing protein 8", "gene_name": "ZC3H8", "gene_names_uniprotkb": "ZC3H8; ZC3HDC8", "gene_names_refseq": "Fliz1; ZC3H8; ZC3HDC8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N5P1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N5P1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KQKNKNLKAGHKNGKQKKMK", "down_seq": "KWPGPGNKGSNALLRNSGSQ", "snv": [ { "evidence": [ { "id": "Q8N5P1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N5P1" } ], "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": "2", "chr_pos": "112236630", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R146", "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: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": "146", "end_pos": "146" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "19", "end_pos": "19" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "199", "end_pos": "199" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "83", "end_pos": "83" } ] } ], "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": "Q8N5P1-1.191.191", "start_pos": 191, "end_pos": 191, "uniprot_canonical_ac": "Q8N5P1-1", "length": 291, "uniprot_id": "ZC3H8_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 8", "refseq_ac": "NP_115883", "refseq_name": "zinc finger CCCH domain-containing protein 8", "gene_name": "ZC3H8", "gene_names_uniprotkb": "ZC3H8; ZC3HDC8", "gene_names_refseq": "Fliz1; ZC3H8; ZC3HDC8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N5P1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N5P1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KPKEKQQHLSQAFINQHTVE", "down_seq": "KGKQICKYFLERKCIKGDQC", "snv": [ { "evidence": [ { "id": "Q8N5P1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N5P1" } ], "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 (4).", "chr_id": "2", "chr_pos": "112234170", "ref_nt": "G", "alt_nt": "A", "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: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": "146", "end_pos": "146" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "19", "end_pos": "19" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "199", "end_pos": "199" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q8N5P1-1.199.199", "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": "Q8N5P1-1.19.19", "start_pos": 19, "end_pos": 19, "uniprot_canonical_ac": "Q8N5P1-1", "length": 291, "uniprot_id": "ZC3H8_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 8", "refseq_ac": "NP_115883", "refseq_name": "zinc finger CCCH domain-containing protein 8", "gene_name": "ZC3H8", "gene_names_uniprotkb": "ZC3H8; ZC3HDC8", "gene_names_refseq": "Fliz1; ZC3H8; ZC3HDC8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8N5P1", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N5P1", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "MDFENLFSKPPNPALGKT", "down_seq": "TDSDERIDDEIDTEVEETQE", "snv": [ { "evidence": [ { "id": "Q8N5P1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8N5P1" } ], "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": "2", "chr_pos": "112254926", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A19", "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: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": "146", "end_pos": "146" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "19", "end_pos": "19" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "199", "end_pos": "199" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8N5P1-1.0.0", "categories": [ "glycosylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8N5P1-1.22.22", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8N5P1-1.32.32", "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": "Q8N5P1-1.199.199", "start_pos": 199, "end_pos": 199, "uniprot_canonical_ac": "Q8N5P1-1", "length": 291, "uniprot_id": "ZC3H8_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 8", "refseq_ac": "NP_115883", "refseq_name": "zinc finger CCCH domain-containing protein 8", "gene_name": "ZC3H8", "gene_names_uniprotkb": "ZC3H8; ZC3HDC8", "gene_names_refseq": "Fliz1; ZC3H8; ZC3HDC8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" } ], "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": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "LSQAFINQHTVERKGKQICK", "down_seq": "FLERKCIKGDQCKFDHDAEI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Tyr199" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "19", "end_pos": "19" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "199", "end_pos": "199" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8N5P1-1.191.191", "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": "Q8N5P1-1.22.22", "start_pos": 22, "end_pos": 22, "uniprot_canonical_ac": "Q8N5P1-1", "length": 291, "uniprot_id": "ZC3H8_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 8", "refseq_ac": "NP_115883", "refseq_name": "zinc finger CCCH domain-containing protein 8", "gene_name": "ZC3H8", "gene_names_uniprotkb": "ZC3H8; ZC3HDC8", "gene_names_refseq": "Fliz1; ZC3H8; ZC3HDC8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" } ], "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": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" }, { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "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": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] } ], "crossref": [ { "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1", "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": "DFENLFSKPPNPALGKTATD", "down_seq": "DERIDDEIDTEVEETQEEKI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser22" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "19", "end_pos": "19" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "199", "end_pos": "199" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q8N5P1-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q8N5P1-1.32.32", "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": "Q8N5P1-1.32.32", "start_pos": 32, "end_pos": 32, "uniprot_canonical_ac": "Q8N5P1-1", "length": 291, "uniprot_id": "ZC3H8_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 8", "refseq_ac": "NP_115883", "refseq_name": "zinc finger CCCH domain-containing protein 8", "gene_name": "ZC3H8", "gene_names_uniprotkb": "ZC3H8; ZC3HDC8", "gene_names_refseq": "Fliz1; ZC3H8; ZC3HDC8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" } ], "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": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" }, { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "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": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" }, { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "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": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" }, { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1", "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": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1", "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": "NPALGKTATDSDERIDDEID", "down_seq": "EVEETQEEKIKLECEQIPKK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" }, { "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": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr32" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "19", "end_pos": "19" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "199", "end_pos": "199" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8N5P1-1.19.19", "categories": [ "snv_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q8N5P1-1.22.22", "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": "Q8N5P1-1.56.56", "start_pos": 56, "end_pos": 56, "uniprot_canonical_ac": "Q8N5P1-1", "length": 291, "uniprot_id": "ZC3H8_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 8", "refseq_ac": "NP_115883", "refseq_name": "zinc finger CCCH domain-containing protein 8", "gene_name": "ZC3H8", "gene_names_uniprotkb": "ZC3H8; ZC3HDC8", "gene_names_refseq": "Fliz1; ZC3H8; ZC3HDC8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" } ], "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": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1", "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": "ETQEEKIKLECEQIPKKFRH", "down_seq": "AISPKSSLHRKSRSKDYDVY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser56" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "19", "end_pos": "19" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "199", "end_pos": "199" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q8N5P1-1.59.59", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8N5P1-1.62.62", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8N5P1-1.63.63", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8N5P1-1.76.76", "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": "Q8N5P1-1.59.59", "start_pos": 59, "end_pos": 59, "uniprot_canonical_ac": "Q8N5P1-1", "length": 291, "uniprot_id": "ZC3H8_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 8", "refseq_ac": "NP_115883", "refseq_name": "zinc finger CCCH domain-containing protein 8", "gene_name": "ZC3H8", "gene_names_uniprotkb": "ZC3H8; ZC3HDC8", "gene_names_refseq": "Fliz1; ZC3H8; ZC3HDC8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" } ], "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": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" }, { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "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": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "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": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" }, { "database": "IEDB", "id": "724240", "url": "https://www.iedb.org/epitope/724240" } ], "reference": [ { "type": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ] } ], "crossref": [ { "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N5P1", "url": "https://www.iedb.org/epitope/Q8N5P1", "database": "IEDB", "categories": [ "Other" ] }, { "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EEKIKLECEQIPKKFRHSAI", "down_seq": "PKSSLHRKSRSKDYDVYSDN", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "IEDB", "id": "Q8N5P1", "url": "https://www.iedb.org/epitope/Q8N5P1" }, { "database": "PubMed", "id": "32387766", "url": "https://glygen.org/publication/PubMed/32387766" } ], "site_lbl": "Ser59" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "19", "end_pos": "19" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "199", "end_pos": "199" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q8N5P1-1.56.56", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8N5P1-1.62.62", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8N5P1-1.63.63", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8N5P1-1.76.76", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8N5P1-1.77.77", "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": "Q8N5P1-1.62.62", "start_pos": 62, "end_pos": 62, "uniprot_canonical_ac": "Q8N5P1-1", "length": 291, "uniprot_id": "ZC3H8_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 8", "refseq_ac": "NP_115883", "refseq_name": "zinc finger CCCH domain-containing protein 8", "gene_name": "ZC3H8", "gene_names_uniprotkb": "ZC3H8; ZC3HDC8", "gene_names_refseq": "Fliz1; ZC3H8; ZC3HDC8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" } ], "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": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1", "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": "IKLECEQIPKKFRHSAISPK", "down_seq": "SLHRKSRSKDYDVYSDNDIC", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser62" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "19", "end_pos": "19" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "199", "end_pos": "199" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q8N5P1-1.56.56", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q8N5P1-1.59.59", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8N5P1-1.63.63", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8N5P1-1.76.76", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8N5P1-1.77.77", "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": "Q8N5P1-1.63.63", "start_pos": 63, "end_pos": 63, "uniprot_canonical_ac": "Q8N5P1-1", "length": 291, "uniprot_id": "ZC3H8_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 8", "refseq_ac": "NP_115883", "refseq_name": "zinc finger CCCH domain-containing protein 8", "gene_name": "ZC3H8", "gene_names_uniprotkb": "ZC3H8; ZC3HDC8", "gene_names_refseq": "Fliz1; ZC3H8; ZC3HDC8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" } ], "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": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" }, { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "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": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1", "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": "KLECEQIPKKFRHSAISPKS", "down_seq": "LHRKSRSKDYDVYSDNDICS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser63" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "19", "end_pos": "19" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "199", "end_pos": "199" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q8N5P1-1.56.56", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8N5P1-1.59.59", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8N5P1-1.62.62", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8N5P1-1.76.76", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8N5P1-1.77.77", "categories": [ "phosphorylation_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8N5P1-1.83.83", "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": "Q8N5P1-1.76.76", "start_pos": 76, "end_pos": 76, "uniprot_canonical_ac": "Q8N5P1-1", "length": 291, "uniprot_id": "ZC3H8_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 8", "refseq_ac": "NP_115883", "refseq_name": "zinc finger CCCH domain-containing protein 8", "gene_name": "ZC3H8", "gene_names_uniprotkb": "ZC3H8; ZC3HDC8", "gene_names_refseq": "Fliz1; ZC3H8; ZC3HDC8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" } ], "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": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" }, { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "SAISPKSSLHRKSRSKDYDV", "down_seq": "SDNDICSQESEDNFAKELQQ", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Tyr76" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "19", "end_pos": "19" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "199", "end_pos": "199" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8N5P1-1.56.56", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q8N5P1-1.59.59", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q8N5P1-1.62.62", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q8N5P1-1.63.63", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8N5P1-1.77.77", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q8N5P1-1.83.83", "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": "Q8N5P1-1.77.77", "start_pos": 77, "end_pos": 77, "uniprot_canonical_ac": "Q8N5P1-1", "length": 291, "uniprot_id": "ZC3H8_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 8", "refseq_ac": "NP_115883", "refseq_name": "zinc finger CCCH domain-containing protein 8", "gene_name": "ZC3H8", "gene_names_uniprotkb": "ZC3H8; ZC3HDC8", "gene_names_refseq": "Fliz1; ZC3H8; ZC3HDC8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" } ], "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": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" }, { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.", "journal": "Science (New York, N.Y.)", "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": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" }, { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] }, { "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": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] }, { "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": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418", "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": "AISPKSSLHRKSRSKDYDVY", "down_seq": "DNDICSQESEDNFAKELQQY", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser77" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "19", "end_pos": "19" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "199", "end_pos": "199" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8N5P1-1.59.59", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q8N5P1-1.62.62", "categories": [ "phosphorylation_flag" ] }, { "distance": 14, "direction": "downstream", "id": "Q8N5P1-1.63.63", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8N5P1-1.76.76", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8N5P1-1.83.83", "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": "Q8N5P1-1.83.83", "start_pos": 83, "end_pos": 83, "uniprot_canonical_ac": "Q8N5P1-1", "length": 291, "uniprot_id": "ZC3H8_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 8", "refseq_ac": "NP_115883", "refseq_name": "zinc finger CCCH domain-containing protein 8", "gene_name": "ZC3H8", "gene_names_uniprotkb": "ZC3H8; ZC3HDC8", "gene_names_refseq": "Fliz1; ZC3H8; ZC3HDC8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" } ], "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 (New York, N.Y.)", "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": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" }, { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] }, { "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": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" } ], "reference": [ { "type": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ] } ], "crossref": [ { "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SLHRKSRSKDYDVYSDNDIC", "down_seq": "QESEDNFAKELQQYIQAREM", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N5P1", "url": "https://www.uniprot.org/uniprotkb/Q8N5P1" }, { "database": "iPTMnet", "id": "Q8N5P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N5P1" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "PubMed", "id": "18077418", "url": "https://glygen.org/publication/PubMed/18077418" } ], "site_lbl": "Ser83" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "146", "end_pos": "146" }, { "start_pos": "191", "end_pos": "191" }, { "start_pos": "19", "end_pos": "19" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "199", "end_pos": "199" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "56", "end_pos": "56" }, { "start_pos": "59", "end_pos": "59" }, { "start_pos": "62", "end_pos": "62" }, { "start_pos": "63", "end_pos": "63" }, { "start_pos": "76", "end_pos": "76" }, { "start_pos": "77", "end_pos": "77" }, { "start_pos": "83", "end_pos": "83" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8N5P1-1.63.63", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q8N5P1-1.76.76", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8N5P1-1.77.77", "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": "Q86W11-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q86W11-1", "length": 494, "uniprot_id": "ZSC30_HUMAN", "protein_name": "Zinc finger and SCAN domain-containing protein 30", "refseq_ac": "NP_001106205", "refseq_name": "zinc finger and SCAN domain-containing protein 30 isoform 1", "gene_name": "ZSCAN30", "gene_names_uniprotkb": "ZSCAN30; ZNF397OS", "gene_names_refseq": "ZNF-WYM; ZNF397OS; ZNF917; ZSCAN30", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86W11", "url": "https://www.uniprot.org/uniprotkb/Q86W11" } ], "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": "Q86W11", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86W11" } ], "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": "Q86W11", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86W11", "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": "Q86W11", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q86W11" } ] } ], "all_sites": [], "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": "Q05481-1.0.0", "start_pos": 0, "end_pos": 0, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "date": "2017", "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q05481", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q05481" } ], "reference": [ { "type": "PubMed", "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811" } ] } ], "crossref": [ { "id": "28411811", "url": "https://glygen.org/publication/PubMed/28411811", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q05481", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q05481", "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": "28411811", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28411811" }, { "id": "Q05481", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q05481" } ] } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "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": "Q05481-1.1033.1033", "start_pos": 1033, "end_pos": 1033, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "TRMHTGEKPYKCEECGKAFN", "down_seq": "SSKLTTHKIIHTGEKPYKCE", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "23359881", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1033", "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: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": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q05481-1.1034.1034", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q05481-1.1035.1035", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q05481-1.1038.1038", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q05481-1.1039.1039", "categories": [ "phosphorylation_flag" ] }, { "distance": 12, "direction": "upstream", "id": "Q05481-1.1045.1045", "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": "Q05481-1.1074.1074", "start_pos": 1074, "end_pos": 1074, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "ECGKAFISSSTLNGHKRIHT", "down_seq": "EKPYKCEECGKAFSQSSTLT", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "2", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (7).", "chr_id": "19", "chr_pos": "23359759", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R1074", "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" } ] }, { "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: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: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": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "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": "Q05481-1.1178.1178", "start_pos": 1178, "end_pos": 1178, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "M", "start_aa": "M", "up_seq": "ITPVIPLLWEAEAGGSRGQE", "down_seq": "ETILANTVKPLLY", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "23359445", "ref_nt": "C", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "M1178", "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: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": "snv", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "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": "Q05481-1.165.165", "start_pos": 165, "end_pos": 165, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "CLTTAQSKVFQCGKYLKVFY", "down_seq": "FLNSNRHTIRHTGKKCFKCK", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "K", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "23362485", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "K165", "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: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": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "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": "Q05481-1.263.263", "start_pos": 263, "end_pos": 263, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "CGKAFKQLSTLTTHKIICAK", "down_seq": "KIYKCEECGKAFLWSSTLTR", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "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": "19", "chr_pos": "23362190", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E263", "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": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "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": "Q05481-1.286.286", "start_pos": 286, "end_pos": 286, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YKCEECGKAFLWSSTLTRHK", "down_seq": "IHTGEKPYKCEECGKAFSHS", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "23362121", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R286", "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: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": "snv", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "Q05481-1.305.305", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q05481-1.305.305", "start_pos": 305, "end_pos": 305, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "KRIHTGEKPYKCEECGKAFS", "down_seq": "SSTLAKHKRIHTGEKPYKCE", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "5", "frequency": "0.2", "sequence_org": "H", "sequence_mut": "R", "comment": "Somatic mutation passed 1 filters: num. of cancers (6).", "chr_id": "19", "chr_pos": "23362065", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "H305", "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: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: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: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": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q05481-1.286.286", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q05481-1.314.314", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q05481-1.314.314", "start_pos": 314, "end_pos": 314, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YKCEECGKAFSHSSTLAKHK", "down_seq": "IHTGEKPYKCEECGKAFSRS", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "23362038", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R314", "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: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": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q05481-1.305.305", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q05481-1.333.333", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q05481-1.333.333", "start_pos": 333, "end_pos": 333, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KRIHTGEKPYKCEECGKAFS", "down_seq": "SSTLAKHKRIHTGEKPYKCK", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "23361982", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R333", "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: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: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": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "6", "frequency": "0.3", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "23361981", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R333", "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" } ] }, { "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": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q05481-1.314.314", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q05481-1.342.342", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q05481-1.353.353", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "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": "Q05481-1.342.342", "start_pos": 342, "end_pos": 342, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YKCEECGKAFSRSSTLAKHK", "down_seq": "IHTGEKPYKCKECGKAFSNS", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "23361954", "ref_nt": "C", "alt_nt": "A", "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: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": "snv", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q05481-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q05481-1.353.353", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q05481-1.353.353", "start_pos": 353, "end_pos": 353, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RSSTLAKHKRIHTGEKPYKC", "down_seq": "ECGKAFSNSSTLANHKITHT", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "2053", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "23361922", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K353", "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: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: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": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q05481-1.333.333", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q05481-1.342.342", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q05481-1.384.384", "start_pos": 384, "end_pos": 384, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "TLANHKITHTEEKPYKCKEC", "down_seq": "KAFKRLSTLTKHKIIHAGEK", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "23361828", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "D384", "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: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": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "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": "Q05481-1.520.520", "start_pos": 520, "end_pos": 520, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "RQSSTLTKHKIIHTGEKPYK", "down_seq": "EECGKAFRQSLTLNKHKIIH", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "F", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "23361420", "ref_nt": "A", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "F520", "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: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": "snv", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q05481-1.521.521", "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": "Q05481-1.521.521", "start_pos": 521, "end_pos": 521, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "QSSTLTKHKIIHTGEKPYKF", "down_seq": "ECGKAFRQSLTLNKHKIIHS", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "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 (4).", "chr_id": "19", "chr_pos": "23361418", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E521", "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: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": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q05481-1.520.520", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q05481-1.549.549", "start_pos": 549, "end_pos": 549, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "QSLTLNKHKIIHSREKPYKC", "down_seq": "ECGKAFKQFSTLTTHKIIHA", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "23361334", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K549", "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: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" } ] }, { "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": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "upstream", "id": "Q05481-1.560.560", "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": "Q05481-1.644.644", "start_pos": 644, "end_pos": 644, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "HTGEKPYKCEECGKAFSHSS", "down_seq": "LAKHKRIHTGEKPYKCKECG", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "23361049", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A644", "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: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": "snv", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "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": "Q05481-1.725.725", "start_pos": 725, "end_pos": 725, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "KIIHAGEKLYKCEECGKAFN", "down_seq": "SSNLTIHKFIHTGEKPYKCE", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "3", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "23360805", "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: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": "snv", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "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": "Q05481-1.762.762", "start_pos": 762, "end_pos": 762, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "YKCEECGKAFNWSSSLTKHK", "down_seq": "IHTREKPFKCKECGKAFIWS", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "1704", "subjects_positive": "4", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "23360694", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R762", "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": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "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": "Q05481-1.829.829", "start_pos": 829, "end_pos": 829, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q05481", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "RSSTLTKHKTIHTGEKPYKC", "down_seq": "ECGKAFKHSSALAKHKIIHA", "snv": [ { "evidence": [ { "id": "Q05481", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q05481" } ], "glycoeffect": [], "subjects_tested": "4799", "subjects_positive": "2", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "E", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "19", "chr_pos": "23360494", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "K829", "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: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: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": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "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": "Q05481-1.1034.1034", "start_pos": 1034, "end_pos": 1034, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q05481-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] } ], "crossref": [ { "id": "Q05481", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RMHTGEKPYKCEECGKAFNR", "down_seq": "SKLTTHKIIHTGEKPYKCEE", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q05481", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ], "site_lbl": "Ser1034" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q05481-1.1033.1033", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q05481-1.1035.1035", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q05481-1.1038.1038", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q05481-1.1039.1039", "categories": [ "phosphorylation_flag" ] }, { "distance": 11, "direction": "upstream", "id": "Q05481-1.1045.1045", "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": "Q05481-1.1035.1035", "start_pos": 1035, "end_pos": 1035, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q05481-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] } ], "crossref": [ { "id": "Q05481", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MHTGEKPYKCEECGKAFNRS", "down_seq": "KLTTHKIIHTGEKPYKCEEC", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q05481", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ], "site_lbl": "Ser1035" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q05481-1.1033.1033", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q05481-1.1034.1034", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q05481-1.1038.1038", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q05481-1.1039.1039", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q05481-1.1045.1045", "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": "Q05481-1.1038.1038", "start_pos": 1038, "end_pos": 1038, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q05481-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] } ], "crossref": [ { "id": "Q05481", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GEKPYKCEECGKAFNRSSKL", "down_seq": "THKIIHTGEKPYKCEECGKA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q05481", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ], "site_lbl": "Thr1038" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q05481-1.1033.1033", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q05481-1.1034.1034", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q05481-1.1035.1035", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q05481-1.1039.1039", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q05481-1.1045.1045", "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": "Q05481-1.1039.1039", "start_pos": 1039, "end_pos": 1039, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q05481-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] } ], "crossref": [ { "id": "Q05481", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EKPYKCEECGKAFNRSSKLT", "down_seq": "HKIIHTGEKPYKCEECGKAF", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q05481", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ], "site_lbl": "Thr1039" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 6, "direction": "downstream", "id": "Q05481-1.1033.1033", "categories": [ "snv_flag" ] }, { "distance": 5, "direction": "downstream", "id": "Q05481-1.1034.1034", "categories": [ "phosphorylation_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q05481-1.1035.1035", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q05481-1.1038.1038", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q05481-1.1045.1045", "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": "Q05481-1.1045.1045", "start_pos": 1045, "end_pos": 1045, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q05481-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] } ], "crossref": [ { "id": "Q05481", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "EECGKAFNRSSKLTTHKIIH", "down_seq": "GEKPYKCEECGKAFISSSTL", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q05481", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ], "site_lbl": "Thr1045" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "Q05481-1.1033.1033", "categories": [ "snv_flag" ] }, { "distance": 11, "direction": "downstream", "id": "Q05481-1.1034.1034", "categories": [ "phosphorylation_flag" ] }, { "distance": 10, "direction": "downstream", "id": "Q05481-1.1035.1035", "categories": [ "phosphorylation_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q05481-1.1038.1038", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q05481-1.1039.1039", "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": "Q05481-1.560.560", "start_pos": 560, "end_pos": 560, "uniprot_canonical_ac": "Q05481-1", "length": 1191, "uniprot_id": "ZNF91_HUMAN", "protein_name": "Zinc finger protein 91", "refseq_ac": "NP_001287880", "refseq_name": "zinc finger protein 91 isoform 2", "gene_name": "ZNF91", "gene_names_uniprotkb": "ZNF91", "gene_names_refseq": "HPF7; HTF10; ZNF91", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q05481", "url": "https://www.uniprot.org/uniprotkb/Q05481" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "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": "Q05481-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481-1" } ], "reference": [ { "type": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ] } ], "crossref": [ { "id": "Q05481", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "HSREKPYKCKECGKAFKQFS", "down_seq": "LTTHKIIHAGKKLYKCEECG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q05481", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q05481" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" } ], "site_lbl": "Thr560" } ], "all_sites": [ { "type": "snv", "site_list": [ { "start_pos": "1033", "end_pos": "1033" }, { "start_pos": "1074", "end_pos": "1074" }, { "start_pos": "1178", "end_pos": "1178" }, { "start_pos": "165", "end_pos": "165" }, { "start_pos": "263", "end_pos": "263" }, { "start_pos": "286", "end_pos": "286" }, { "start_pos": "305", "end_pos": "305" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "333", "end_pos": "333" }, { "start_pos": "342", "end_pos": "342" }, { "start_pos": "353", "end_pos": "353" }, { "start_pos": "384", "end_pos": "384" }, { "start_pos": "520", "end_pos": "520" }, { "start_pos": "521", "end_pos": "521" }, { "start_pos": "549", "end_pos": "549" }, { "start_pos": "644", "end_pos": "644" }, { "start_pos": "725", "end_pos": "725" }, { "start_pos": "762", "end_pos": "762" }, { "start_pos": "829", "end_pos": "829" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1034", "end_pos": "1034" }, { "start_pos": "1035", "end_pos": "1035" }, { "start_pos": "1038", "end_pos": "1038" }, { "start_pos": "1039", "end_pos": "1039" }, { "start_pos": "1045", "end_pos": "1045" }, { "start_pos": "560", "end_pos": "560" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 11, "direction": "downstream", "id": "Q05481-1.549.549", "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": "Q8IXZ2-1.33.33", "start_pos": 33, "end_pos": 33, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "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": "Q8IXZ2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LLQGLIDDYKTLHGNAPAPG", "down_seq": "PAASGWQPPTYHSGRAFSAR", "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": "Thr33", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "Q8IXZ2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "8", "chr_pos": "143539269", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T33", "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": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q8IXZ2-1.29.29", "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": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IXZ2-1.382.382", "start_pos": 382, "end_pos": 382, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "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": "Q8IXZ2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IXZ2" }, { "database": "O-GlcNAc Atlas", "id": "Q8IXZ2", "url": "https://oglcnac.org/atlas/detail/Q8IXZ2" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "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": "Q8IXZ2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IXZ2" }, { "database": "O-GlcNAc Atlas", "id": "Q8IXZ2", "url": "https://oglcnac.org/atlas/detail/Q8IXZ2" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IXZ2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IXZ2", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IXZ2", "url": "https://oglcnac.org/atlas/detail/Q8IXZ2", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1563889852", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1563889852", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1563889852", "url": "https://www.ensembl.org/id/rs1563889852", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RKPATSSKPGSAPSKYKWKA", "down_seq": "SPSASSSSSFRWQSEASSKD", "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": "Ser382", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q8IXZ2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IXZ2" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IXZ2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IXZ2" } ] } ], "snv": [ { "evidence": [ { "id": "rs1563889852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1563889852" }, { "id": "rs1563889852", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1563889852" } ], "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": "8", "chr_pos": "143538222", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S382", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q8IXZ2-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8IXZ2-1.383.383", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8IXZ2-1.399.399", "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": "Q8IXZ2-1.383.383", "start_pos": 383, "end_pos": 383, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "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": "Q8IXZ2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IXZ2" }, { "database": "O-GlcNAc Atlas", "id": "Q8IXZ2", "url": "https://oglcnac.org/atlas/detail/Q8IXZ2" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "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": "Q8IXZ2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IXZ2" }, { "database": "O-GlcNAc Atlas", "id": "Q8IXZ2", "url": "https://oglcnac.org/atlas/detail/Q8IXZ2" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis.", "journal": "Analytical chemistry", "date": "2008", "authors": "Wang B, Malik R, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "Q8IXZ2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2-1" } ], "reference": [ { "type": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IXZ2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IXZ2", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IXZ2", "url": "https://oglcnac.org/atlas/detail/Q8IXZ2", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1434456495", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434456495", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1434456495", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1434456495#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "KPATSSKPGSAPSKYKWKAS", "down_seq": "PSASSSSSFRWQSEASSKDH", "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": "Ser383", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q8IXZ2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IXZ2" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IXZ2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IXZ2" } ] } ], "snv": [ { "evidence": [ { "id": "rs1434456495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1434456495" }, { "id": "rs1434456495", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1434456495#frequency_tab" } ], "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": "8", "chr_pos": "143538220", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S383", "keywords": [ "ebi", "germline" ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ], "site_lbl": "Ser383" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ], "mutagenesis": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q8IXZ2-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8IXZ2-1.382.382", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8IXZ2-1.399.399", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "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": "Q8IXZ2-1.707.707", "start_pos": 707, "end_pos": 707, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "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": "Q8IXZ2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IXZ2" }, { "database": "O-GlcNAc Atlas", "id": "Q8IXZ2", "url": "https://oglcnac.org/atlas/detail/Q8IXZ2" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "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": "Q8IXZ2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IXZ2" }, { "database": "O-GlcNAc Atlas", "id": "Q8IXZ2", "url": "https://oglcnac.org/atlas/detail/Q8IXZ2" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "crossref": [ { "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IXZ2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IXZ2", "database": "O-GlcNAc Database", "categories": [ "Other" ] }, { "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IXZ2", "url": "https://oglcnac.org/atlas/detail/Q8IXZ2", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "rs1820466053", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1820466053", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1820466053", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1820466053", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "RCPYIHDPEKVAVCTRFVRG", "down_seq": "CKKTDGTCPFSHHVSKEKMP", "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": "Thr707", "evidence": [ { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "Q8IXZ2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8IXZ2" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "Q8IXZ2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8IXZ2" } ] } ], "snv": [ { "evidence": [ { "id": "rs1820466053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1820466053" }, { "id": "rs1820466053", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1820466053" } ], "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": "8", "chr_pos": "143468265", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T707", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q8IXZ2-1.711.711", "categories": [ "snv_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q8IXZ2-1.727.727", "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": "Q8IXZ2-1.123.123", "start_pos": 123, "end_pos": 123, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IXZ2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "PPVPQQHVLERQVQLSQGQN", "down_seq": "VIKVKPPSKSGSASASGAQR", "snv": [ { "evidence": [ { "id": "Q8IXZ2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2" } ], "glycoeffect": [], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "143539000", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V123", "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: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": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "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": "Q8IXZ2-1.151.151", "start_pos": 151, "end_pos": 151, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IXZ2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SKSGSASASGAQRGSLEEFE", "down_seq": "TPWSDQRPREGEGEPPRGQL", "snv": [ { "evidence": [ { "id": "Q8IXZ2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2" } ], "glycoeffect": [], "subjects_tested": "2617", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "D", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "143538914", "ref_nt": "T", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "E151", "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: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": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "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": "Q8IXZ2-1.220.220", "start_pos": 220, "end_pos": 220, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2130525252", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2130525252", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2130525252", "url": "https://www.ensembl.org/id/rs2130525252", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "RMVKSVGSVGDSPREPRRTV", "down_seq": "ESVIAVKASFPSSALPPRTG", "snv": [ { "evidence": [ { "id": "rs2130525252", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2130525252" }, { "id": "rs2130525252", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2130525252" } ], "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 (SES->NES).", "chr_id": "8", "chr_pos": "143538708", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S220", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8IXZ2-1.207.207", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "Q8IXZ2-1.211.211", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8IXZ2-1.226.226", "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": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IXZ2-1.226.226", "start_pos": 226, "end_pos": 226, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IXZ2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "V", "start_aa": "V", "up_seq": "GSVGDSPREPRRTVSESVIA", "down_seq": "KASFPSSALPPRTGVALGRK", "snv": [ { "evidence": [ { "id": "Q8IXZ2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "8", "chr_pos": "143538691", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V226", "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": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8IXZ2-1.207.207", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q8IXZ2-1.211.211", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8IXZ2-1.220.220", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IXZ2-1.29.29", "start_pos": 29, "end_pos": 29, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IXZ2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "RQIRLLQGLIDDYKTLHGNA", "down_seq": "APGTPAASGWQPPTYHSGRA", "snv": [ { "evidence": [ { "id": "Q8IXZ2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2" } ], "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 (NAP->NAS).", "chr_id": "8", "chr_pos": "143539282", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P29", "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": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q8IXZ2-1.33.33", "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": "Q8IXZ2-1.311.311", "start_pos": 311, "end_pos": 311, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1396870101", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1396870101", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1396870101", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1396870101", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "QAREASLVVTCRTNKFRKNN", "down_seq": "KWVAASSKSPRVARRALSPR", "snv": [ { "evidence": [ { "id": "rs1396870101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1396870101" }, { "id": "rs1396870101", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1396870101" } ], "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": "8", "chr_pos": "143538435", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y311", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "downstream", "id": "Q8IXZ2-1.303.303", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "upstream", "id": "Q8IXZ2-1.312.312", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IXZ2-1.312.312", "start_pos": 312, "end_pos": 312, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1822879503", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1822879503", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1822879503", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1822879503#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "AREASLVVTCRTNKFRKNNY", "down_seq": "WVAASSKSPRVARRALSPRV", "snv": [ { "evidence": [ { "id": "rs1822879503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1822879503" }, { "id": "rs1822879503", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1822879503#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NYK->NYT).", "chr_id": "8", "chr_pos": "143538432", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K312", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8IXZ2-1.303.303", "categories": [ "phosphorylation_flag" ] }, { "distance": 1, "direction": "downstream", "id": "Q8IXZ2-1.311.311", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IXZ2-1.380.380", "start_pos": 380, "end_pos": 380, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs773499300", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773499300", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs773499300", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773499300", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs773499300", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773499300#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs773499300", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773499300", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "KPRKPATSSKPGSAPSKYKW", "down_seq": "ASSPSASSSSSFRWQSEASS", "snv": [ { "evidence": [ { "id": "rs773499300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773499300" }, { "id": "rs773499300", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773499300" }, { "id": "rs773499300", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773499300#frequency_tab" }, { "id": "rs773499300", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773499300" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KAS->NAS).", "chr_id": "8", "chr_pos": "143538227", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K380", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q8IXZ2-1.382.382", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8IXZ2-1.383.383", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8IXZ2-1.399.399", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IXZ2-1.399.399", "start_pos": 399, "end_pos": 399, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IXZ2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "WKASSPSASSSSSFRWQSEA", "down_seq": "SKDHASQLSPVLSRSPSGDR", "snv": [ { "evidence": [ { "id": "Q8IXZ2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "143538172", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S399", "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": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "Q8IXZ2-1.380.380", "categories": [ "snv_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q8IXZ2-1.382.382", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q8IXZ2-1.383.383", "categories": [ "glycosylation_flag", "snv_flag", "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IXZ2-1.408.408", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8IXZ2-1.412.412", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8IXZ2-1.414.414", "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": "Q8IXZ2-1.497.497", "start_pos": 497, "end_pos": 497, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs575035318", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575035318", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs575035318", "url": "https://www.ensembl.org/id/rs575035318", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "RRRQALRGKSSPVLKKTPNK", "down_seq": "LVQVTTHRLCRLPPSRAHLP", "snv": [ { "evidence": [ { "id": "rs575035318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575035318" }, { "id": "rs575035318", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs575035318" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NKG->NKS).", "chr_id": "8", "chr_pos": "143536329", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G497", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "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": "Q8IXZ2-1.528.528", "start_pos": 528, "end_pos": 528, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IXZ2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "RLPPSRAHLPTKEASSLHAV", "down_seq": "TAPTSKVIKTRYRIVKKTPA", "snv": [ { "evidence": [ { "id": "Q8IXZ2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2" } ], "glycoeffect": [], "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "143507879", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R528", "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: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "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": "Q8IXZ2-1.679.679", "start_pos": 679, "end_pos": 679, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs769977001", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769977001", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs769977001", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769977001", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs769977001", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769977001", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "IRQARQRREKRKEYCMYYNR", "down_seq": "GRCNRGERCPYIHDPEKVAV", "snv": [ { "evidence": [ { "id": "rs769977001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769977001" }, { "id": "rs769977001", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769977001" }, { "id": "rs769977001", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769977001" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRF->NRS).", "chr_id": "8", "chr_pos": "143468451", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F679", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "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": "Q8IXZ2-1.711.711", "start_pos": 711, "end_pos": 711, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IXZ2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "IHDPEKVAVCTRFVRGTCKK", "down_seq": "DGTCPFSHHVSKEKMPVCSY", "snv": [ { "evidence": [ { "id": "Q8IXZ2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "143468252", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T711", "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": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q8IXZ2-1.707.707", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q8IXZ2-1.727.727", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IXZ2-1.727.727", "start_pos": 727, "end_pos": 727, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IXZ2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "TCKKTDGTCPFSHHVSKEKM", "down_seq": "VCSYFLKGICSNSNCPYSHV", "snv": [ { "evidence": [ { "id": "Q8IXZ2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2" } ], "glycoeffect": [], "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "8", "chr_pos": "143465844", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P727", "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: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": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8IXZ2-1.707.707", "categories": [ "glycosylation_flag", "snv_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q8IXZ2-1.711.711", "categories": [ "snv_flag" ] }, { "distance": 14, "direction": "upstream", "id": "Q8IXZ2-1.741.741", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IXZ2-1.741.741", "start_pos": 741, "end_pos": 741, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs746500739", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746500739", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746500739", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746500739", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746500739", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746500739#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs746500739", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746500739", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "VSKEKMPVCSYFLKGICSNS", "down_seq": "CPYSHVYVSRKAEVCSDFLK", "snv": [ { "evidence": [ { "id": "rs746500739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746500739" }, { "id": "rs746500739", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746500739" }, { "id": "rs746500739", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746500739#frequency_tab" }, { "id": "rs746500739", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746500739" } ], "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": "8", "chr_pos": "143465802", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N741", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 14, "direction": "downstream", "id": "Q8IXZ2-1.727.727", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IXZ2-1.797.797", "start_pos": 797, "end_pos": 797, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IXZ2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "LCPDFARRGACPRGAQCQLL", "down_seq": "RTQKRHSRRAATSPAPGPSD", "snv": [ { "evidence": [ { "id": "Q8IXZ2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (HRT->NRT).", "chr_id": "8", "chr_pos": "143441039", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H797", "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": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q8IXZ2-1.817.817", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IXZ2-1.80.80", "start_pos": 80, "end_pos": 80, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1822923316", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1822923316", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1822923316", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1822923316#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1822923316", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1822923316", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "RGYSSHHGPSWRKKYSLVNR", "down_seq": "PGPSDPPADHAVRPLHGARG", "snv": [ { "evidence": [ { "id": "rs1822923316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1822923316" }, { "id": "rs1822923316", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1822923316#frequency_tab" }, { "id": "rs1822923316", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1822923316" } ], "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": "8", "chr_pos": "143539129", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P80", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "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": "Q8IXZ2-1.817.817", "start_pos": 817, "end_pos": 817, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IXZ2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs768676755", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768676755", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs768676755", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768676755", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs768676755", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768676755#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs768676755", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768676755", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "HRTQKRHSRRAATSPAPGPS", "down_seq": "ATARSRVSASHGPRKPSASQ", "snv": [ { "evidence": [ { "id": "Q8IXZ2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2" }, { "id": "rs768676755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768676755" }, { "id": "rs768676755", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768676755" }, { "id": "rs768676755", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768676755#frequency_tab" }, { "id": "rs768676755", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768676755" } ], "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 (DAT->NAT).", "chr_id": "8", "chr_pos": "143440979", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D817", "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": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q8IXZ2-1.797.797", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q8IXZ2-1.935.935", "start_pos": 935, "end_pos": 935, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q8IXZ2", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "LQSSPSPGAQPRVRAPRAPL", "down_seq": "KDSGKPLHIKPRL", "snv": [ { "evidence": [ { "id": "Q8IXZ2", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8IXZ2" } ], "glycoeffect": [], "subjects_tested": "4177", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: num. of cancers (4).", "chr_id": "8", "chr_pos": "143440052", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "T935", "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: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: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": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q8IXZ2-1.917.917", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q8IXZ2-1.918.918", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q8IXZ2-1.920.920", "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": "Q8IXZ2-1.207.207", "start_pos": 207, "end_pos": 207, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "iPTMnet", "id": "Q8IXZ2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2-1" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] } ], "crossref": [ { "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "DPLLVCQKEPGKPRMVKSVG", "down_seq": "VGDSPREPRRTVSESVIAVK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ], "site_lbl": "Ser207" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "upstream", "id": "Q8IXZ2-1.211.211", "categories": [ "phosphorylation_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q8IXZ2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 19, "direction": "upstream", "id": "Q8IXZ2-1.226.226", "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": "Q8IXZ2-1.211.211", "start_pos": 211, "end_pos": 211, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "iPTMnet", "id": "Q8IXZ2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2-1" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] }, { "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": "Q8IXZ2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] } ], "crossref": [ { "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679", "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": "VCQKEPGKPRMVKSVGSVGD", "down_seq": "PREPRRTVSESVIAVKASFP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser211" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 4, "direction": "downstream", "id": "Q8IXZ2-1.207.207", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IXZ2-1.220.220", "categories": [ "snv_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8IXZ2-1.226.226", "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": "Q8IXZ2-1.303.303", "start_pos": 303, "end_pos": 303, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "date": "2008", "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "evidence": [ { "database": "iPTMnet", "id": "Q8IXZ2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2-1" } ], "reference": [ { "type": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ] } ], "crossref": [ { "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "ARPASGPRQAREASLVVTCR", "down_seq": "NKFRKNNYKWVAASSKSPRV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Thr303" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 8, "direction": "upstream", "id": "Q8IXZ2-1.311.311", "categories": [ "snv_flag" ] }, { "distance": 9, "direction": "upstream", "id": "Q8IXZ2-1.312.312", "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": "Q8IXZ2-1.408.408", "start_pos": 408, "end_pos": 408, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "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": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" }, { "database": "iPTMnet", "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2" } ], "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": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" }, { "database": "iPTMnet", "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "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": "Q8IXZ2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2", "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": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2", "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": "SSSSFRWQSEASSKDHASQL", "down_seq": "PVLSRSPSGDRPAVGHSGLK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" }, { "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": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser408" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q8IXZ2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q8IXZ2-1.412.412", "categories": [ "phosphorylation_flag" ] }, { "distance": 6, "direction": "upstream", "id": "Q8IXZ2-1.414.414", "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": "Q8IXZ2-1.412.412", "start_pos": 412, "end_pos": 412, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "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": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" }, { "database": "iPTMnet", "id": "Q8IXZ2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] } ], "crossref": [ { "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2", "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": "FRWQSEASSKDHASQLSPVL", "down_seq": "RSPSGDRPAVGHSGLKPLSG", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser412" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q8IXZ2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q8IXZ2-1.408.408", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8IXZ2-1.414.414", "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": "Q8IXZ2-1.414.414", "start_pos": 414, "end_pos": 414, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "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": "Q8IXZ2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] } ], "crossref": [ { "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2", "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": "WQSEASSKDHASQLSPVLSR", "down_seq": "PSGDRPAVGHSGLKPLSGET", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser414" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 15, "direction": "downstream", "id": "Q8IXZ2-1.399.399", "categories": [ "snv_flag" ] }, { "distance": 6, "direction": "downstream", "id": "Q8IXZ2-1.408.408", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8IXZ2-1.412.412", "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": "Q8IXZ2-1.569.569", "start_pos": 569, "end_pos": 569, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis.", "journal": "Analytical chemistry", "date": "2008", "authors": "Wang B, Malik R, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "Q8IXZ2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2-1" } ], "reference": [ { "type": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ] } ], "crossref": [ { "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SPLSAPPFPLSLPSWRARRL", "down_seq": "LSRSLVLNRLRPVASGGGKA", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ], "site_lbl": "Ser569" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "upstream", "id": "Q8IXZ2-1.571.571", "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": "Q8IXZ2-1.571.571", "start_pos": 571, "end_pos": 571, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "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": "Q8IXZ2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis.", "journal": "Analytical chemistry", "date": "2008", "authors": "Wang B, Malik R, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "Q8IXZ2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2-1" } ], "reference": [ { "type": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ] } ], "crossref": [ { "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976", "database": "PubMed", "categories": [ "Other" ] }, { "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LSAPPFPLSLPSWRARRLSL", "down_seq": "RSLVLNRLRPVASGGGKAQP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ], "site_lbl": "Ser571" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q8IXZ2-1.569.569", "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": "Q8IXZ2-1.917.917", "start_pos": 917, "end_pos": 917, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "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": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" }, { "database": "iPTMnet", "id": "Q8IXZ2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2", "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": "ALAAACSNRLCKLPSFISLQ", "down_seq": "SPSPGAQPRVRAPRAPLTKD", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser917" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q8IXZ2-1.918.918", "categories": [ "phosphorylation_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q8IXZ2-1.920.920", "categories": [ "phosphorylation_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q8IXZ2-1.935.935", "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": "Q8IXZ2-1.918.918", "start_pos": 918, "end_pos": 918, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "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": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" }, { "database": "iPTMnet", "id": "Q8IXZ2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LAAACSNRLCKLPSFISLQS", "down_seq": "PSPGAQPRVRAPRAPLTKDS", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2" } ], "site_lbl": "Ser918" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q8IXZ2-1.917.917", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q8IXZ2-1.920.920", "categories": [ "phosphorylation_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q8IXZ2-1.935.935", "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": "Q8IXZ2-1.920.920", "start_pos": 920, "end_pos": 920, "uniprot_canonical_ac": "Q8IXZ2-1", "length": 948, "uniprot_id": "ZC3H3_HUMAN", "protein_name": "Zinc finger CCCH domain-containing protein 3", "refseq_ac": "NP_055932", "refseq_name": "zinc finger CCCH domain-containing protein 3", "gene_name": "ZC3H3", "gene_names_uniprotkb": "ZC3H3; KIAA0150; SMICL; ZC3HDC3", "gene_names_refseq": "SMICL; ZC3H3; ZC3HDC3", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" } ], "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": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" }, { "database": "iPTMnet", "id": "Q8IXZ2-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] } ], "crossref": [ { "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AACSNRLCKLPSFISLQSSP", "down_seq": "PGAQPRVRAPRAPLTKDSGK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IXZ2", "url": "https://www.uniprot.org/uniprotkb/Q8IXZ2" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q8IXZ2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8IXZ2" } ], "site_lbl": "Ser920" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "33", "end_pos": "33" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "707", "end_pos": "707" } ] }, { "type": "snv", "site_list": [ { "start_pos": "123", "end_pos": "123" }, { "start_pos": "151", "end_pos": "151" }, { "start_pos": "220", "end_pos": "220" }, { "start_pos": "226", "end_pos": "226" }, { "start_pos": "29", "end_pos": "29" }, { "start_pos": "311", "end_pos": "311" }, { "start_pos": "312", "end_pos": "312" }, { "start_pos": "33", "end_pos": "33" }, { "start_pos": "380", "end_pos": "380" }, { "start_pos": "382", "end_pos": "382" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "399", "end_pos": "399" }, { "start_pos": "497", "end_pos": "497" }, { "start_pos": "528", "end_pos": "528" }, { "start_pos": "679", "end_pos": "679" }, { "start_pos": "707", "end_pos": "707" }, { "start_pos": "711", "end_pos": "711" }, { "start_pos": "727", "end_pos": "727" }, { "start_pos": "741", "end_pos": "741" }, { "start_pos": "797", "end_pos": "797" }, { "start_pos": "80", "end_pos": "80" }, { "start_pos": "817", "end_pos": "817" }, { "start_pos": "935", "end_pos": "935" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "207", "end_pos": "207" }, { "start_pos": "211", "end_pos": "211" }, { "start_pos": "303", "end_pos": "303" }, { "start_pos": "383", "end_pos": "383" }, { "start_pos": "408", "end_pos": "408" }, { "start_pos": "412", "end_pos": "412" }, { "start_pos": "414", "end_pos": "414" }, { "start_pos": "569", "end_pos": "569" }, { "start_pos": "571", "end_pos": "571" }, { "start_pos": "917", "end_pos": "917" }, { "start_pos": "918", "end_pos": "918" }, { "start_pos": "920", "end_pos": "920" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q8IXZ2-1.917.917", "categories": [ "phosphorylation_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q8IXZ2-1.918.918", "categories": [ "phosphorylation_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q8IXZ2-1.935.935", "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": "Q9NUE0-1.32.32", "start_pos": 32, "end_pos": 32, "uniprot_canonical_ac": "Q9NUE0-1", "length": 388, "uniprot_id": "ZDH18_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC18", "refseq_ac": "NP_115659", "refseq_name": "palmitoyltransferase ZDHHC18", "gene_name": "ZDHHC18", "gene_names_uniprotkb": "ZDHHC18", "gene_names_refseq": "DHHC-18; DHHC18; ZDHHC18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUE0", "url": "https://www.uniprot.org/uniprotkb/Q9NUE0" } ], "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": "rs1465821250", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465821250", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1465821250", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1465821250#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1389647767", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389647767", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1389647767", "url": "https://www.ensembl.org/id/rs1389647767", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "GAAPLPASPGARRPGPAASP", "down_seq": "PGPGPAPPAAPAPPRWSSSG", "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": "Thr32", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs1465821250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465821250" }, { "id": "rs1465821250", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1465821250#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": "1", "chr_pos": "26826899", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T32", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1389647767", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389647767" }, { "id": "rs1389647767", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1389647767" } ], "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": "26826898", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T32", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "371", "end_pos": "371" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" }, { "start_pos": "334", "end_pos": "334" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q9NUE0-1.19.19", "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": 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": "Q9NUE0-1.166.166", "start_pos": 166, "end_pos": 166, "uniprot_canonical_ac": "Q9NUE0-1", "length": 388, "uniprot_id": "ZDH18_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC18", "refseq_ac": "NP_115659", "refseq_name": "palmitoyltransferase ZDHHC18", "gene_name": "ZDHHC18", "gene_names_uniprotkb": "ZDHHC18", "gene_names_refseq": "DHHC-18; DHHC18; ZDHHC18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUE0", "url": "https://www.uniprot.org/uniprotkb/Q9NUE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs961056830", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs961056830", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs961056830", "url": "https://www.ncbi.nlm.nih.gov/snp/rs961056830#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "DPGILPRATVCEAAALEKQI", "down_seq": "NTGSSTYRPPPRTREVLING", "snv": [ { "evidence": [ { "id": "rs961056830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs961056830" }, { "id": "rs961056830", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs961056830#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DNT->NNT).", "chr_id": "1", "chr_pos": "26832607", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D166", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "371", "end_pos": "371" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" }, { "start_pos": "334", "end_pos": "334" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "upstream", "id": "Q9NUE0-1.169.169", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NUE0-1.169.169", "start_pos": 169, "end_pos": 169, "uniprot_canonical_ac": "Q9NUE0-1", "length": 388, "uniprot_id": "ZDH18_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC18", "refseq_ac": "NP_115659", "refseq_name": "palmitoyltransferase ZDHHC18", "gene_name": "ZDHHC18", "gene_names_uniprotkb": "ZDHHC18", "gene_names_refseq": "DHHC-18; DHHC18; ZDHHC18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUE0", "url": "https://www.uniprot.org/uniprotkb/Q9NUE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1215182852", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1215182852", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1215182852", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1215182852#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "G", "start_aa": "G", "up_seq": "ILPRATVCEAAALEKQIDNT", "down_seq": "SSTYRPPPRTREVLINGQMV", "snv": [ { "evidence": [ { "id": "rs1215182852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1215182852" }, { "id": "rs1215182852", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1215182852#frequency_tab" } ], "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": "26848616", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G169", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "371", "end_pos": "371" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" }, { "start_pos": "334", "end_pos": "334" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9NUE0-1.166.166", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NUE0-1.212.212", "start_pos": 212, "end_pos": 212, "uniprot_canonical_ac": "Q9NUE0-1", "length": 388, "uniprot_id": "ZDH18_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC18", "refseq_ac": "NP_115659", "refseq_name": "palmitoyltransferase ZDHHC18", "gene_name": "ZDHHC18", "gene_names_uniprotkb": "ZDHHC18", "gene_names_refseq": "DHHC-18; DHHC18; ZDHHC18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUE0", "url": "https://www.uniprot.org/uniprotkb/Q9NUE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs753027286", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753027286", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs753027286", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753027286", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs753027286", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753027286#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs753027286", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753027286", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KYCFTCKMFRPPRTSHCSVC", "down_seq": "NCVERFDHHCPWVGNCVGRR", "snv": [ { "evidence": [ { "id": "rs753027286", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753027286" }, { "id": "rs753027286", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753027286" }, { "id": "rs753027286", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753027286#frequency_tab" }, { "id": "rs753027286", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753027286" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DNC->NNC).", "chr_id": "1", "chr_pos": "26848745", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D212", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "371", "end_pos": "371" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" }, { "start_pos": "334", "end_pos": "334" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q9NUE0-1.232.232", "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": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NUE0-1.232.232", "start_pos": 232, "end_pos": 232, "uniprot_canonical_ac": "Q9NUE0-1", "length": 388, "uniprot_id": "ZDH18_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC18", "refseq_ac": "NP_115659", "refseq_name": "palmitoyltransferase ZDHHC18", "gene_name": "ZDHHC18", "gene_names_uniprotkb": "ZDHHC18", "gene_names_refseq": "DHHC-18; DHHC18; ZDHHC18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUE0", "url": "https://www.uniprot.org/uniprotkb/Q9NUE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NUE0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUE0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DNCVERFDHHCPWVGNCVGR", "down_seq": "NYRFFYAFILSLSFLTAFIF", "snv": [ { "evidence": [ { "id": "Q9NUE0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUE0" } ], "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": "1", "chr_pos": "26850348", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R232", "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: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": "32", "end_pos": "32" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "371", "end_pos": "371" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" }, { "start_pos": "334", "end_pos": "334" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9NUE0-1.212.212", "categories": [ "snv_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q9NUE0-1.235.235", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "Q9NUE0-1.235.235", "start_pos": 235, "end_pos": 235, "uniprot_canonical_ac": "Q9NUE0-1", "length": 388, "uniprot_id": "ZDH18_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC18", "refseq_ac": "NP_115659", "refseq_name": "palmitoyltransferase ZDHHC18", "gene_name": "ZDHHC18", "gene_names_uniprotkb": "ZDHHC18", "gene_names_refseq": "DHHC-18; DHHC18; ZDHHC18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUE0", "url": "https://www.uniprot.org/uniprotkb/Q9NUE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NUE0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUE0", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "rs774787807", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774787807", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs774787807", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774787807", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs774787807", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774787807", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "VERFDHHCPWVGNCVGRRNY", "down_seq": "FFYAFILSLSFLTAFIFACV", "snv": [ { "evidence": [ { "id": "Q9NUE0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUE0" }, { "id": "rs774787807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774787807" }, { "id": "rs774787807", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774787807" }, { "id": "rs774787807", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774787807" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NYR->NYC).", "chr_id": "1", "chr_pos": "26850357", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R235", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "371", "end_pos": "371" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" }, { "start_pos": "334", "end_pos": "334" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q9NUE0-1.232.232", "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": "Q9NUE0-1.2.2", "start_pos": 2, "end_pos": 2, "uniprot_canonical_ac": "Q9NUE0-1", "length": 388, "uniprot_id": "ZDH18_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC18", "refseq_ac": "NP_115659", "refseq_name": "palmitoyltransferase ZDHHC18", "gene_name": "ZDHHC18", "gene_names_uniprotkb": "ZDHHC18", "gene_names_refseq": "DHHC-18; DHHC18; ZDHHC18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUE0", "url": "https://www.uniprot.org/uniprotkb/Q9NUE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2081558798", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2081558798", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2081558798", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2081558798#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "M", "down_seq": "DCEYQQISPGAAPLPASPGA", "snv": [ { "evidence": [ { "id": "rs2081558798", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2081558798" }, { "id": "rs2081558798", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2081558798#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KDC->NDC).", "chr_id": "1", "chr_pos": "26826810", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K2", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "371", "end_pos": "371" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" }, { "start_pos": "334", "end_pos": "334" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "upstream", "id": "Q9NUE0-1.19.19", "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": "Q9NUE0-1.314.314", "start_pos": 314, "end_pos": 314, "uniprot_canonical_ac": "Q9NUE0-1", "length": 388, "uniprot_id": "ZDH18_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC18", "refseq_ac": "NP_115659", "refseq_name": "palmitoyltransferase ZDHHC18", "gene_name": "ZDHHC18", "gene_names_uniprotkb": "ZDHHC18", "gene_names_refseq": "DHHC-18; DHHC18; ZDHHC18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUE0", "url": "https://www.uniprot.org/uniprotkb/Q9NUE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1297780197", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1297780197", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1297780197", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1297780197#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1297780197", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1297780197", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "K", "start_aa": "K", "up_seq": "GLSGFHTYLVASNLTTNEDI", "down_seq": "GSWSSKRGGEASVNPYSHKS", "snv": [ { "evidence": [ { "id": "rs1297780197", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1297780197" }, { "id": "rs1297780197", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1297780197#frequency_tab" }, { "id": "rs1297780197", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1297780197" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (KGS->NGS).", "chr_id": "1", "chr_pos": "26852758", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K314", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "371", "end_pos": "371" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" }, { "start_pos": "334", "end_pos": "334" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "upstream", "id": "Q9NUE0-1.334.334", "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": "Q9NUE0-1.371.371", "start_pos": 371, "end_pos": 371, "uniprot_canonical_ac": "Q9NUE0-1", "length": 388, "uniprot_id": "ZDH18_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC18", "refseq_ac": "NP_115659", "refseq_name": "palmitoyltransferase ZDHHC18", "gene_name": "ZDHHC18", "gene_names_uniprotkb": "ZDHHC18", "gene_names_refseq": "DHHC-18; DHHC18; ZDHHC18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUE0", "url": "https://www.uniprot.org/uniprotkb/Q9NUE0" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q9NUE0", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUE0", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LIDRRGFVQSDTVLPSPIRS", "down_seq": "EPACRAKPDASMVGGHP", "snv": [ { "evidence": [ { "id": "Q9NUE0", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9NUE0" } ], "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 (4).", "chr_id": "1", "chr_pos": "26853787", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D371", "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" } ] }, { "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": "32", "end_pos": "32" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "371", "end_pos": "371" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" }, { "start_pos": "334", "end_pos": "334" } ] } ], "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": "Q9NUE0-1.19.19", "start_pos": 19, "end_pos": 19, "uniprot_canonical_ac": "Q9NUE0-1", "length": 388, "uniprot_id": "ZDH18_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC18", "refseq_ac": "NP_115659", "refseq_name": "palmitoyltransferase ZDHHC18", "gene_name": "ZDHHC18", "gene_names_uniprotkb": "ZDHHC18", "gene_names_refseq": "DHHC-18; DHHC18; ZDHHC18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUE0", "url": "https://www.uniprot.org/uniprotkb/Q9NUE0" } ], "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": "Q9NUE0", "url": "https://www.uniprot.org/uniprotkb/Q9NUE0" }, { "database": "iPTMnet", "id": "Q9NUE0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUE0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "Q9NUE0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUE0-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "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": "Q9NUE0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUE0-1" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] } ], "crossref": [ { "id": "Q9NUE0", "url": "https://www.uniprot.org/uniprotkb/Q9NUE0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9NUE0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUE0", "database": "iPTMnet", "categories": [ "Other" ] }, { "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994", "database": "PubMed", "categories": [ "Other" ] }, { "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "MKDCEYQQISPGAAPLPA", "down_seq": "PGARRPGPAASPTPGPGPAP", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9NUE0", "url": "https://www.uniprot.org/uniprotkb/Q9NUE0" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q9NUE0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUE0" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ], "site_lbl": "Ser19" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "371", "end_pos": "371" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" }, { "start_pos": "334", "end_pos": "334" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 17, "direction": "downstream", "id": "Q9NUE0-1.2.2", "categories": [ "snv_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q9NUE0-1.32.32", "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": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9NUE0-1.334.334", "start_pos": 334, "end_pos": 334, "uniprot_canonical_ac": "Q9NUE0-1", "length": 388, "uniprot_id": "ZDH18_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC18", "refseq_ac": "NP_115659", "refseq_name": "palmitoyltransferase ZDHHC18", "gene_name": "ZDHHC18", "gene_names_uniprotkb": "ZDHHC18", "gene_names_refseq": "DHHC-18; DHHC18; ZDHHC18", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NUE0", "url": "https://www.uniprot.org/uniprotkb/Q9NUE0" } ], "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": "Q9NUE0-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUE0-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] } ], "crossref": [ { "id": "Q9NUE0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUE0", "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": "KGSWSSKRGGEASVNPYSHK", "down_seq": "IITNCCAVLCGPLPPSLIDR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9NUE0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9NUE0" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser334" } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "32", "end_pos": "32" } ] }, { "type": "snv", "site_list": [ { "start_pos": "166", "end_pos": "166" }, { "start_pos": "169", "end_pos": "169" }, { "start_pos": "212", "end_pos": "212" }, { "start_pos": "232", "end_pos": "232" }, { "start_pos": "235", "end_pos": "235" }, { "start_pos": "2", "end_pos": "2" }, { "start_pos": "314", "end_pos": "314" }, { "start_pos": "32", "end_pos": "32" }, { "start_pos": "371", "end_pos": "371" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "19", "end_pos": "19" }, { "start_pos": "334", "end_pos": "334" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q9NUE0-1.314.314", "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": "Q5W0Z9-1.153.153", "start_pos": 153, "end_pos": 153, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Fatty acyl recognition and transfer by an integral membrane S-acyltransferase.", "journal": "Science (New York, N.Y.)", "date": "2018", "authors": "Rana MS, Kumar P, Lee CJ, Verardi R, Rajashankar KR, Banerjee A", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "LIKPDRAHHCSACDSCILKM", "down_seq": "HHCPWVNNCVGFSNYKFFLL", "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q5W0Z9-1.154.154", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q5W0Z9-1.156.156", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q5W0Z9-1.158.158", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q5W0Z9-1.171.171", "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": "Q5W0Z9-1.154.154", "start_pos": 154, "end_pos": 154, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Fatty acyl recognition and transfer by an integral membrane S-acyltransferase.", "journal": "Science (New York, N.Y.)", "date": "2018", "authors": "Rana MS, Kumar P, Lee CJ, Verardi R, Rajashankar KR, Banerjee A", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "H", "start_aa": "H", "up_seq": "IKPDRAHHCSACDSCILKMD", "down_seq": "HCPWVNNCVGFSNYKFFLLF", "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q5W0Z9-1.153.153", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5W0Z9-1.156.156", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q5W0Z9-1.158.158", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "upstream", "id": "Q5W0Z9-1.171.171", "categories": [ "mutagenesis_flag" ] }, { "distance": 20, "direction": "upstream", "id": "Q5W0Z9-1.174.174", "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": "Q5W0Z9-1.156.156", "start_pos": 156, "end_pos": 156, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Fatty acyl recognition and transfer by an integral membrane S-acyltransferase.", "journal": "Science (New York, N.Y.)", "date": "2018", "authors": "Rana MS, Kumar P, Lee CJ, Verardi R, Rajashankar KR, Banerjee A", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "C", "start_aa": "C", "up_seq": "PDRAHHCSACDSCILKMDHH", "down_seq": "PWVNNCVGFSNYKFFLLFLL", "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 3, "direction": "downstream", "id": "Q5W0Z9-1.153.153", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5W0Z9-1.154.154", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5W0Z9-1.158.158", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "upstream", "id": "Q5W0Z9-1.171.171", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "upstream", "id": "Q5W0Z9-1.174.174", "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": "Q5W0Z9-1.158.158", "start_pos": 158, "end_pos": 158, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Fatty acyl recognition and transfer by an integral membrane S-acyltransferase.", "journal": "Science (New York, N.Y.)", "date": "2018", "authors": "Rana MS, Kumar P, Lee CJ, Verardi R, Rajashankar KR, Banerjee A", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "RAHHCSACDSCILKMDHHCP", "down_seq": "VNNCVGFSNYKFFLLFLLYS", "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Strongly reduced catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q5W0Z9-1.153.153", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q5W0Z9-1.154.154", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5W0Z9-1.156.156", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "upstream", "id": "Q5W0Z9-1.171.171", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q5W0Z9-1.174.174", "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": "Q5W0Z9-1.171.171", "start_pos": 171, "end_pos": 171, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Fatty acyl recognition and transfer by an integral membrane S-acyltransferase.", "journal": "Science (New York, N.Y.)", "date": "2018", "authors": "Rana MS, Kumar P, Lee CJ, Verardi R, Rajashankar KR, Banerjee A", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "KMDHHCPWVNNCVGFSNYKF", "down_seq": "LLFLLYSLLYCLFVAATVLE", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Loss of catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 18, "direction": "downstream", "id": "Q5W0Z9-1.153.153", "categories": [ "mutagenesis_flag" ] }, { "distance": 17, "direction": "downstream", "id": "Q5W0Z9-1.154.154", "categories": [ "mutagenesis_flag" ] }, { "distance": 15, "direction": "downstream", "id": "Q5W0Z9-1.156.156", "categories": [ "mutagenesis_flag" ] }, { "distance": 13, "direction": "downstream", "id": "Q5W0Z9-1.158.158", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "upstream", "id": "Q5W0Z9-1.174.174", "categories": [ "mutagenesis_flag" ] }, { "distance": 10, "direction": "upstream", "id": "Q5W0Z9-1.181.181", "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": "Q5W0Z9-1.174.174", "start_pos": 174, "end_pos": 174, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Fatty acyl recognition and transfer by an integral membrane S-acyltransferase.", "journal": "Science (New York, N.Y.)", "date": "2018", "authors": "Rana MS, Kumar P, Lee CJ, Verardi R, Rajashankar KR, Banerjee A", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "HHCPWVNNCVGFSNYKFFLL", "down_seq": "LLYSLLYCLFVAATVLEYFI", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Strongly reduced catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 20, "direction": "downstream", "id": "Q5W0Z9-1.154.154", "categories": [ "mutagenesis_flag" ] }, { "distance": 18, "direction": "downstream", "id": "Q5W0Z9-1.156.156", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "downstream", "id": "Q5W0Z9-1.158.158", "categories": [ "mutagenesis_flag" ] }, { "distance": 3, "direction": "downstream", "id": "Q5W0Z9-1.171.171", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "upstream", "id": "Q5W0Z9-1.181.181", "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": "Q5W0Z9-1.181.181", "start_pos": 181, "end_pos": 181, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Fatty acyl recognition and transfer by an integral membrane S-acyltransferase.", "journal": "Science (New York, N.Y.)", "date": "2018", "authors": "Rana MS, Kumar P, Lee CJ, Verardi R, Rajashankar KR, Banerjee A", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "Y", "start_aa": "Y", "up_seq": "NCVGFSNYKFFLLFLLYSLL", "down_seq": "CLFVAATVLEYFIKFWTNEL", "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Moderately reduced catalytic activity. Enhances activity with acyl-CoA with C18 and C20 fatty acid chains.", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 10, "direction": "downstream", "id": "Q5W0Z9-1.171.171", "categories": [ "mutagenesis_flag" ] }, { "distance": 7, "direction": "downstream", "id": "Q5W0Z9-1.174.174", "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": "Q5W0Z9-1.227.227", "start_pos": 227, "end_pos": 227, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Fatty acyl recognition and transfer by an integral membrane S-acyltransferase.", "journal": "Science (New York, N.Y.)", "date": "2018", "authors": "Rana MS, Kumar P, Lee CJ, Verardi R, Rajashankar KR, Banerjee A", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "L", "start_aa": "L", "up_seq": "KFHVLFLFFVSAMFFISVLS", "down_seq": "FSYHCWLVGKNRTTIESFRA", "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "Loss of catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "upstream", "id": "Q5W0Z9-1.240.241", "categories": [ "mutagenesis_flag" ] }, { "distance": 16, "direction": "upstream", "id": "Q5W0Z9-1.243.243", "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": "Q5W0Z9-1.22.22", "start_pos": 22, "end_pos": 22, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Fatty acyl recognition and transfer by an integral membrane S-acyltransferase.", "journal": "Science (New York, N.Y.)", "date": "2018", "authors": "Rana MS, Kumar P, Lee CJ, Verardi R, Rajashankar KR, Banerjee A", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "I", "start_aa": "I", "up_seq": "APWTLWRCCQRVVGWVPVLF", "down_seq": "TFVVVWSYYAYVVELCVFTI", "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "W", "comment": "Strongly reduced catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "Q5W0Z9-1.29.29", "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": "Q5W0Z9-1.240.241", "start_pos": 240, "end_pos": 241, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Fatty acyl recognition and transfer by an integral membrane S-acyltransferase.", "journal": "Science (New York, N.Y.)", "date": "2018", "authors": "Rana MS, Kumar P, Lee CJ, Verardi R, Rajashankar KR, Banerjee A", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "TT", "start_aa": "T", "up_seq": "FFISVLSLFSYHCWLVGKNR", "down_seq": "IESFRAPTFSYGPDGNGFSL", "mutagenesis": [ { "sequence_org": "TT", "sequence_mut": "AA", "comment": "Loss of catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 13, "direction": "downstream", "id": "Q5W0Z9-1.227.227", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "upstream", "id": "Q5W0Z9-1.243.243", "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": "Q5W0Z9-1.243.243", "start_pos": 243, "end_pos": 243, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Fatty acyl recognition and transfer by an integral membrane S-acyltransferase.", "journal": "Science (New York, N.Y.)", "date": "2018", "authors": "Rana MS, Kumar P, Lee CJ, Verardi R, Rajashankar KR, Banerjee A", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "SVLSLFSYHCWLVGKNRTTI", "down_seq": "SFRAPTFSYGPDGNGFSLGC", "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Mildly reduced catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "Q5W0Z9-1.227.227", "categories": [ "mutagenesis_flag" ] }, { "distance": 2, "direction": "downstream", "id": "Q5W0Z9-1.240.241", "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": "Q5W0Z9-1.266.266", "start_pos": 266, "end_pos": 266, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Fatty acyl recognition and transfer by an integral membrane S-acyltransferase.", "journal": "Science (New York, N.Y.)", "date": "2018", "authors": "Rana MS, Kumar P, Lee CJ, Verardi R, Rajashankar KR, Banerjee A", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "N", "start_aa": "N", "up_seq": "RAPTFSYGPDGNGFSLGCSK", "down_seq": "WRQVFGDEKKYWLLPIFSSL", "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Strongly reduced catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "upstream", "id": "Q5W0Z9-1.267.267", "categories": [ "mutagenesis_flag" ] }, { "distance": 5, "direction": "upstream", "id": "Q5W0Z9-1.271.271", "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": "Q5W0Z9-1.267.267", "start_pos": 267, "end_pos": 267, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Fatty acyl recognition and transfer by an integral membrane S-acyltransferase.", "journal": "Science (New York, N.Y.)", "date": "2018", "authors": "Rana MS, Kumar P, Lee CJ, Verardi R, Rajashankar KR, Banerjee A", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "W", "start_aa": "W", "up_seq": "APTFSYGPDGNGFSLGCSKN", "down_seq": "RQVFGDEKKYWLLPIFSSLG", "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "", "comment": "Loss of catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q5W0Z9-1.266.266", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "upstream", "id": "Q5W0Z9-1.271.271", "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": "Q5W0Z9-1.271.271", "start_pos": 271, "end_pos": 271, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Fatty acyl recognition and transfer by an integral membrane S-acyltransferase.", "journal": "Science (New York, N.Y.)", "date": "2018", "authors": "Rana MS, Kumar P, Lee CJ, Verardi R, Rajashankar KR, Banerjee A", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "F", "start_aa": "F", "up_seq": "SYGPDGNGFSLGCSKNWRQV", "down_seq": "GDEKKYWLLPIFSSLGDGCS", "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Mildly reduced catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 5, "direction": "downstream", "id": "Q5W0Z9-1.266.266", "categories": [ "mutagenesis_flag" ] }, { "distance": 4, "direction": "downstream", "id": "Q5W0Z9-1.267.267", "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" ] } ] }, { "id": "Q5W0Z9-1.29.29", "start_pos": 29, "end_pos": 29, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [ { "title": "Fatty acyl recognition and transfer by an integral membrane S-acyltransferase.", "journal": "Science (New York, N.Y.)", "date": "2018", "authors": "Rana MS, Kumar P, Lee CJ, Verardi R, Rajashankar KR, Banerjee A", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "CCQRVVGWVPVLFITFVVVW", "down_seq": "YYAYVVELCVFTIFGNEENG", "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Strongly reduced catalytic activity. Enhances activity with acyl-CoA with C12 and C14 fatty acid chains.", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "PubMed", "id": "29326245", "url": "https://glygen.org/publication/PubMed/29326245" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "Q5W0Z9-1.22.22", "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": "Q5W0Z9-1.105.105", "start_pos": 105, "end_pos": 105, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "Q5W0Z9", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5W0Z9", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "E", "start_aa": "E", "up_seq": "YLSNSEKERYEKEFSQERQQ", "down_seq": "ILRRAARALPIYTTSASKTI", "snv": [ { "evidence": [ { "id": "Q5W0Z9", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q5W0Z9" } ], "glycoeffect": [], "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "13", "chr_pos": "21413709", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E105", "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": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "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": "Q5W0Z9-1.305.305", "start_pos": 305, "end_pos": 305, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "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": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "iPTMnet", "id": "Q5W0Z9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5W0Z9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5W0Z9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SLGDGCSFPTRLVGMDPEQA", "down_seq": "VTNQNEYARSSGSNQPFPIK", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5W0Z9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5W0Z9" } ], "site_lbl": "Ser305" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "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": "Q5W0Z9-1.330.330", "start_pos": 330, "end_pos": 330, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "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": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "iPTMnet", "id": "Q5W0Z9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q5W0Z9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5W0Z9", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "NEYARSSGSNQPFPIKPLSE", "down_seq": "KNRLLDSESQWLENGAEEGI", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q5W0Z9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5W0Z9" } ], "site_lbl": "Ser330" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "Q5W0Z9-1.339.339", "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": "Q5W0Z9-1.339.339", "start_pos": 339, "end_pos": 339, "uniprot_canonical_ac": "Q5W0Z9-1", "length": 365, "uniprot_id": "ZDH20_HUMAN", "protein_name": "Palmitoyltransferase ZDHHC20", "refseq_ac": "NP_001273567", "refseq_name": "palmitoyltransferase ZDHHC20 isoform 2", "gene_name": "ZDHHC20", "gene_names_uniprotkb": "ZDHHC20", "gene_names_refseq": "4933421L13Rik; DHHC-20; DHHC20; ZDHHC20", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" } ], "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 (New York, N.Y.)", "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": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "iPTMnet", "id": "Q5W0Z9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5W0Z9" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] } ], "crossref": [ { "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5W0Z9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5W0Z9", "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": "NQPFPIKPLSESKNRLLDSE", "down_seq": "QWLENGAEEGIVKSGTNNHV", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by ATM", "evidence": [ { "database": "UniProtKB", "id": "Q5W0Z9", "url": "https://www.uniprot.org/uniprotkb/Q5W0Z9" }, { "database": "iPTMnet", "id": "Q5W0Z9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5W0Z9" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ], "site_lbl": "Ser339" } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "153", "end_pos": "153" }, { "start_pos": "154", "end_pos": "154" }, { "start_pos": "156", "end_pos": "156" }, { "start_pos": "158", "end_pos": "158" }, { "start_pos": "171", "end_pos": "171" }, { "start_pos": "174", "end_pos": "174" }, { "start_pos": "181", "end_pos": "181" }, { "start_pos": "227", "end_pos": "227" }, { "start_pos": "22", "end_pos": "22" }, { "start_pos": "240", "end_pos": "241" }, { "start_pos": "243", "end_pos": "243" }, { "start_pos": "266", "end_pos": "266" }, { "start_pos": "267", "end_pos": "267" }, { "start_pos": "271", "end_pos": "271" }, { "start_pos": "29", "end_pos": "29" } ] }, { "type": "snv", "site_list": [ { "start_pos": "105", "end_pos": "105" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "305", "end_pos": "305" }, { "start_pos": "330", "end_pos": "330" }, { "start_pos": "339", "end_pos": "339" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "Q5W0Z9-1.330.330", "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": "A7E2V4-1.1077.1077", "start_pos": 1077, "end_pos": 1077, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "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": "A7E2V4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A7E2V4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "TSGSAGPAQPGSVAGAGPGP", "down_seq": "EGFTEKNVPESSPHSPCEGL", "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": "Thr1077", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "A7E2V4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A7E2V4" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->A).", "chr_id": "10", "chr_pos": "73796984", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T1077", "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": "A7E2V4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A7E2V4" } ], "glycoeffect": [ "o-glyco-site-loss" ], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 filters: o-glyco-site-loss (T->N).", "chr_id": "10", "chr_pos": "73796985", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T1077", "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": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "categories": [ "glycosylation_flag", "snv_flag" ], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "upstream", "id": "A7E2V4-1.1086.1086", "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": 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": "A7E2V4-1.1476.1476", "start_pos": 1476, "end_pos": 1476, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "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": "rs757566826", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757566826", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs757566826", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757566826", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs757566826", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757566826#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs757566826", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757566826", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "MPEGRGGPGTEPVTVAAAAV", "down_seq": "AAATVVPVISVGSSLYPGPG", "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": "Thr1476", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "snv": [ { "evidence": [ { "id": "rs757566826", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757566826" }, { "id": "rs757566826", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757566826" }, { "id": "rs757566826", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757566826#frequency_tab" }, { "id": "rs757566826", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757566826" } ], "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": "10", "chr_pos": "73799365", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1476", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757566826", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757566826" }, { "id": "rs757566826", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757566826" }, { "id": "rs757566826", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757566826#frequency_tab" }, { "id": "rs757566826", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757566826" } ], "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": "10", "chr_pos": "73799365", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1476", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "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": 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": "A7E2V4-1.1566.1566", "start_pos": 1566, "end_pos": 1566, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "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": "SAYPQGVHPAFLGAQYPYSV", "down_seq": "PPSLAATAVSFPVPSMAPIT", "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": "Thr1566", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "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": 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": "A7E2V4-1.210.210", "start_pos": 210, "end_pos": 210, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "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": "CGAGAKWCTHVVALCLFRIH", "down_seq": "ASAVCLRAPVSESLSRLQRD", "glycosylation": [ { "glytoucan_ac": "G07755XJ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "IHNASAVCLR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn210", "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": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "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": 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": "A7E2V4-1.276.276", "start_pos": 276, "end_pos": 276, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "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": "DELLSSQSTAINTVCGAPDP", "down_seq": "AGPSASDQSTWYLDESTLTD", "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": "Thr276", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "upstream", "id": "A7E2V4-1.283.283", "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": "A7E2V4-1.352.352", "start_pos": 352, "end_pos": 352, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "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": "A7E2V4", "url": "https://oglcnac.org/atlas/detail/A7E2V4" } ], "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": "A7E2V4", "url": "https://oglcnac.org/atlas/detail/A7E2V4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "WACLLRPLRGREPEGVWNLL", "down_seq": "IVREMFKRRDSNAAPLLEIL", "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": "Ser352", "evidence": [ { "id": "35705054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35705054" }, { "id": "A7E2V4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A7E2V4" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "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", "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": "A7E2V4-1.514.514", "start_pos": 514, "end_pos": 514, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "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": "A7E2V4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A7E2V4" } ], "reference": [ { "type": "PubMed", "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887" } ] }, { "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": "A7E2V4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A7E2V4" }, { "database": "O-GlcNAc Atlas", "id": "A7E2V4", "url": "https://oglcnac.org/atlas/detail/A7E2V4" } ], "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": "A7E2V4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A7E2V4" } ], "reference": [ { "type": "PubMed", "id": "38665916", "url": "https://glygen.org/publication/PubMed/38665916" } ] }, { "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": "A7E2V4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A7E2V4" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "crossref": [ { "id": "39894887", "url": "https://glygen.org/publication/PubMed/39894887", "database": "PubMed", "categories": [ "Other" ] }, { "id": "A7E2V4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A7E2V4", "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" ] }, { "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948", "database": "PubMed", "categories": [ "Other" ] }, { "id": "A7E2V4", "url": "https://oglcnac.org/atlas/detail/A7E2V4", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GVTYSGTDRKLALCWARALP", "down_seq": "RPGASRSGGLEESRDRPRPL", "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": "Ser514", "evidence": [ { "id": "39894887", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/39894887" }, { "id": "A7E2V4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A7E2V4" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "38665916", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38665916" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "A7E2V4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A7E2V4" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "downstream", "id": "A7E2V4-1.498.498", "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": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "A7E2V4-1.1086.1086", "start_pos": 1086, "end_pos": 1086, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs968790233", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs968790233", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs968790233", "url": "https://www.ensembl.org/id/rs968790233", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "PGSVAGAGPGPTEGFTEKNV", "down_seq": "ESSPHSPCEGLPSEAALTPR", "snv": [ { "evidence": [ { "id": "rs968790233", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs968790233" }, { "id": "rs968790233", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs968790233" } ], "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": "10", "chr_pos": "73797011", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1086", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 9, "direction": "downstream", "id": "A7E2V4-1.1077.1077", "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": "A7E2V4-1.1120.1120", "start_pos": 1120, "end_pos": 1120, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A7E2V4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A7E2V4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "EAALTPRPEGKVPSRLALGS", "down_seq": "GGYNGRGWGSPGRPKKKHTG", "snv": [ { "evidence": [ { "id": "A7E2V4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A7E2V4" } ], "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": "10", "chr_pos": "73797212", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1120", "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: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": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "upstream", "id": "A7E2V4-1.1139.1139", "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": "A7E2V4-1.1165.1165", "start_pos": 1165, "end_pos": 1165, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A7E2V4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A7E2V4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "DSSAPETTSDSSPTLSRRPL", "down_seq": "GGWAPTSWGRGQDSDSISSS", "snv": [ { "evidence": [ { "id": "A7E2V4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A7E2V4" } ], "glycoeffect": [], "subjects_tested": "1773", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "73797451", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R1165", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "A7E2V4-1.1153.1153", "categories": [ "phosphorylation_flag" ] }, { "distance": 9, "direction": "downstream", "id": "A7E2V4-1.1156.1156", "categories": [ "phosphorylation_flag" ] }, { "distance": 5, "direction": "downstream", "id": "A7E2V4-1.1160.1160", "categories": [ "phosphorylation_flag" ] }, { "distance": 19, "direction": "upstream", "id": "A7E2V4-1.1184.1184", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "A7E2V4-1.1184.1184", "start_pos": 1184, "end_pos": 1184, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1768531585", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1768531585", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1768531585", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1768531585#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1768531585", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1768531585", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "LRGGWAPTSWGRGQDSDSIS", "down_seq": "SSSDSLGSSSSSGSRRASAS", "snv": [ { "evidence": [ { "id": "rs1768531585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1768531585" }, { "id": "rs1768531585", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1768531585#frequency_tab" }, { "id": "rs1768531585", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1768531585" } ], "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": "10", "chr_pos": "73797509", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1184", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 19, "direction": "downstream", "id": "A7E2V4-1.1165.1165", "categories": [ "snv_flag" ] }, { "distance": 12, "direction": "upstream", "id": "A7E2V4-1.1196.1196", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "A7E2V4-1.1196.1196", "start_pos": 1196, "end_pos": 1196, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1166639956", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1166639956", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1166639956", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1166639956#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs1166639956", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1166639956", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "GQDSDSISSSSSDSLGSSSS", "down_seq": "GSRRASASGGARAKTVEVGR", "snv": [ { "evidence": [ { "id": "rs1166639956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1166639956" }, { "id": "rs1166639956", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1166639956#frequency_tab" }, { "id": "rs1166639956", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1166639956" } ], "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 (SGS->NGS).", "chr_id": "10", "chr_pos": "73797545", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1196", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 12, "direction": "downstream", "id": "A7E2V4-1.1184.1184", "categories": [ "snv_flag" ] } ], "glycosylation_flag": false, "snv_flag": true, "mutagenesis_flag": false, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }, { "id": "A7E2V4-1.1431.1431", "start_pos": 1431, "end_pos": 1431, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs746998564", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746998564", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs746998564", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746998564", "database": "ExAC", "categories": [ "Other" ] }, { "id": "rs746998564", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746998564#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] }, { "id": "rs746998564", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746998564", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "EVLFEVAHQWFWLYEQTAGG", "down_seq": "STAREGATSCSASGIRAGGE", "snv": [ { "evidence": [ { "id": "rs746998564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746998564" }, { "id": "rs746998564", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746998564" }, { "id": "rs746998564", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746998564#frequency_tab" }, { "id": "rs746998564", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746998564" } ], "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": "10", "chr_pos": "73800299", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1431", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "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": "A7E2V4-1.144.144", "start_pos": 144, "end_pos": 144, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A7E2V4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A7E2V4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "R", "start_aa": "R", "up_seq": "SCLANGSADEFQRGDQLFRM", "down_seq": "AVKDPLQIGFHLSATVVPPQ", "snv": [ { "evidence": [ { "id": "A7E2V4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A7E2V4" } ], "glycoeffect": [], "subjects_tested": "1906", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "73789163", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R144", "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: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": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "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": "A7E2V4-1.283.283", "start_pos": 283, "end_pos": 283, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1214087727", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1214087727", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1214087727", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1214087727", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "STAINTVCGAPDPTAGPSAS", "down_seq": "QSTWYLDESTLTDNIKKTLH", "snv": [ { "evidence": [ { "id": "rs1214087727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1214087727" }, { "id": "rs1214087727", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1214087727" } ], "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": "10", "chr_pos": "73790198", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D283", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 7, "direction": "downstream", "id": "A7E2V4-1.276.276", "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": "A7E2V4-1.374.374", "start_pos": 374, "end_pos": 374, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A7E2V4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A7E2V4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "VREMFKRRDSNAAPLLEILT", "down_seq": "QCLTYEQITGWWYSVRTSAS", "snv": [ { "evidence": [ { "id": "A7E2V4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A7E2V4" } ], "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 (DQC->NQC).", "chr_id": "10", "chr_pos": "73791153", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D374", "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": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "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": "A7E2V4-1.498.498", "start_pos": 498, "end_pos": 498, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A7E2V4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A7E2V4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "AVEACYFNWEEAYPLPGVTY", "down_seq": "GTDRKLALCWARALPSRPGA", "snv": [ { "evidence": [ { "id": "A7E2V4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A7E2V4" } ], "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 (SGT->NGT).", "chr_id": "10", "chr_pos": "73792032", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S498", "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": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "categories": [ "snv_flag" ], "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 16, "direction": "upstream", "id": "A7E2V4-1.514.514", "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": "A7E2V4-1.624.624", "start_pos": 624, "end_pos": 624, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1267505139", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1267505139", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1267505139", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1267505139#frequency_tab", "database": "TOPMed", "categories": [ "Other" ] } ], "site_seq": "D", "start_aa": "D", "up_seq": "KRRLSSEDSSLEPDLAEMSL", "down_seq": "DSSLALGAEASTFGGFPESP", "snv": [ { "evidence": [ { "id": "rs1267505139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1267505139" }, { "id": "rs1267505139", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1267505139#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": "10", "chr_pos": "73792409", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D624", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "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": "A7E2V4-1.648.648", "start_pos": 648, "end_pos": 648, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "A7E2V4", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A7E2V4", "database": "BioMuta", "categories": [ "Variation" ] } ], "site_seq": "P", "start_aa": "P", "up_seq": "LALGAEASTFGGFPESPPPC", "down_seq": "LHGGSRGPSTFLPEPPDTYE", "snv": [ { "evidence": [ { "id": "A7E2V4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/A7E2V4" } ], "glycoeffect": [], "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "P", "sequence_mut": "H", "comment": "Somatic mutation passed 1 filters: patient freq. (1.1%).", "chr_id": "10", "chr_pos": "73792482", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P648", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "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": "A7E2V4-1.833.833", "start_pos": 833, "end_pos": 833, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs2083516097", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2083516097", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2083516097", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2083516097", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "T", "start_aa": "T", "up_seq": "PAKGKKNKVSTSRQTWVATN", "down_seq": "LSKAAFLLTVLSERPEHHNL", "snv": [ { "evidence": [ { "id": "rs2083516097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2083516097" }, { "id": "rs2083516097", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2083516097" } ], "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": "10", "chr_pos": "73793917", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T833", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "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": "A7E2V4-1.854.854", "start_pos": 854, "end_pos": 854, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1465548175", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465548175", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1465548175", "url": "https://www.ensembl.org/id/rs1465548175", "database": "ENSEMBL", "categories": [ "Other" ] } ], "site_seq": "A", "start_aa": "A", "up_seq": "LSKAAFLLTVLSERPEHHNL", "down_seq": "FRVGMFALELQRPPASTKAL", "snv": [ { "evidence": [ { "id": "rs1465548175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1465548175" }, { "id": "rs1465548175", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1465548175" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLS).", "chr_id": "10", "chr_pos": "73794180", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A854", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "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": "A7E2V4-1.947.947", "start_pos": 947, "end_pos": 947, "uniprot_canonical_ac": "A7E2V4-1", "length": 1837, "uniprot_id": "ZSWM8_HUMAN", "protein_name": "Zinc finger SWIM domain-containing protein 8", "refseq_ac": "NP_001229416", "refseq_name": "zinc finger SWIM domain-containing protein 8 isoform 2", "gene_name": "ZSWIM8", "gene_names_uniprotkb": "ZSWIM8; KIAA0913", "gene_names_refseq": "KIAA0913; ZSWIM8", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A7E2V4", "url": "https://www.uniprot.org/uniprotkb/A7E2V4" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "publication": [], "crossref": [ { "id": "rs1331137948", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1331137948", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs1331137948", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1331137948", "database": "gnomAD", "categories": [ "Other" ] }, { "id": "rs2083542970", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2083542970", "database": "dbSNP", "categories": [ "Other" ] }, { "id": "rs2083542970", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2083542970", "database": "gnomAD", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SFIFDVLCAPGSRPPSRNWN", "down_seq": "ETPGDEELGFEAAVAALGMK", "snv": [ { "evidence": [ { "id": "rs1331137948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1331137948" }, { "id": "rs1331137948", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1331137948" }, { "id": "rs2083542970", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2083542970" }, { "id": "rs2083542970", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2083542970" } ], "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 (SET->NET).", "chr_id": "10", "chr_pos": "73794586", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S947", "keywords": [ "ebi", "germline" ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "1566", "end_pos": "1566" }, { "start_pos": "210", "end_pos": "210" }, { "start_pos": "276", "end_pos": "276" }, { "start_pos": "352", "end_pos": "352" }, { "start_pos": "514", "end_pos": "514" } ] }, { "type": "snv", "site_list": [ { "start_pos": "1077", "end_pos": "1077" }, { "start_pos": "1086", "end_pos": "1086" }, { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1165", "end_pos": "1165" }, { "start_pos": "1184", "end_pos": "1184" }, { "start_pos": "1196", "end_pos": "1196" }, { "start_pos": "1431", "end_pos": "1431" }, { "start_pos": "144", "end_pos": "144" }, { "start_pos": "1476", "end_pos": "1476" }, { "start_pos": "283", "end_pos": "283" }, { "start_pos": "374", "end_pos": "374" }, { "start_pos": "498", "end_pos": "498" }, { "start_pos": "624", "end_pos": "624" }, { "start_pos": "648", "end_pos": "648" }, { "start_pos": "833", "end_pos": "833" }, { "start_pos": "854", "end_pos": "854" }, { "start_pos": "947", "end_pos": "947" } ] }, { "type": "phosphorylation", "site_list": [ { "start_pos": "1139", "end_pos": "1139" }, { "start_pos": "1153", "end_pos": "1153" }, { "start_pos": "1156", "end_pos": "1156" }, { "start_pos": "1160", "end_pos": "1160" }, { "start_pos": "1267", "end_pos": "1267" }, { "start_pos": "1836", "end_pos": "1836" }, { "start_pos": "36", "end_pos": "36" }, { "start_pos": "437", "end_pos": "437" }, { "start_pos": "48", "end_pos": "48" }, { "start_pos": "53", "end_pos": "53" }, { "start_pos": "567", "end_pos": "567" } ] } ], "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": [] } ] } ]